Demo Data from VLDB 2026 / reviewers in the wild / expert
Mikel Hernaez
dblp:23/8853
· DBLP profile ↗
27ranked-venue papers
6as first author
4since 2021 · last 2025
0000-0003-0443-2305ORCID · verified
Domains — the database's venue-derived domains; a paper can count in several
Applied, interdisciplinary, general and emerging computing · 16 · 1 first-author · 3 since 2021Databases, data management, data science and information retrieval · 5 · 1 first-authorGraphics, computer vision, multimedia, augmented reality and games · 5 · 1 first-authorArtificial intelligence and machine learning · 1 · 1 since 2021Computer networks · 1 · 1 first-authorHuman-computer interaction and ubiquitous computing · 1Theory of computation · 1
Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.
| Interdisciplinary, comprehensive, and emerging computing
14 papers |
Bioinformatics and computational biology · 100% | |
| Artificial intelligence
1 paper |
Representation and self-supervised learning · 100% | |
| Theoretical computer science
1 paper |
Coding theory · 100% |
Topics — the 26 heaviest of 28, each with the papers that count most for it
| Topic | Weight | Papers | Last | Evidence papers |
|---|---|---|---|---|
Bioinformatics and computational biology › genomics
genomic data compression |
2.7 | 8 | 2021 | An Introduction to MPEG-G: The First Open ISO/IEC Standard for the Compression and Exchange of Genomic Sequencing Data · Proc. IEEE 2021 GABAC: an arithmetic coding solution for genomic data · Bioinform. 2020 SPRING: a next-generation compressor for FASTQ data · Bioinform. 2019 |
Bioinformatics and computational biology › genomics
genomic data management |
1.2 | 3 | 2021 | An Introduction to MPEG-G: The First Open ISO/IEC Standard for the Compression and Exchange of Genomic Sequencing Data · Proc. IEEE 2021 GPress: a framework for querying general feature format (GFF) files and expression files in a compressed form · Bioinform. 2020 GTRAC: fast retrieval from compressed collections of genomic variants · Bioinform. 2016 |
Bioinformatics and computational biology › genomics › genomic data compression
lossy compression |
0.9 | 3 | 2018 | CALQ: compression of quality values of aligned sequencing data · Bioinform. 2018 FaStore: a space-saving solution for raw sequencing data · Bioinform. 2018 QVZ: lossy compression of quality values · Bioinform. 2015 |
Machine learning › Representation and self-supervised learning
causal representation learning |
0.9 | 1 | 2025 | Interpretable Causal Representation Learning for Biological Data in the Pathway Space · ICLR 2025 |
Machine learning › Representation and self-supervised learning › representation learning
disentangled representation learning |
0.9 | 1 | 2025 | Interpretable Causal Representation Learning for Biological Data in the Pathway Space · ICLR 2025 |
Bioinformatics and computational biology › drug discovery
drug-target interaction prediction |
0.8 | 1 | 2024 | Ge N Nius : an ultrafast drug-target interaction inference method based on graph neural networks · Bioinform. 2024 |
Bioinformatics and computational biology › bioinformatics infrastructure
FASTQ compression |
0.7 | 2 | 2019 | SPRING: a next-generation compressor for FASTQ data · Bioinform. 2019 FaStore: a space-saving solution for raw sequencing data · Bioinform. 2018 |
Bioinformatics and computational biology › single-cell analysis
cell type annotation |
0.6 | 1 | 2022 | JIND: joint integration and discrimination for automated single-cell annotation · Bioinform. 2022 |
Bioinformatics and computational biology › single-cell analysis
single-cell transcriptomics |
0.6 | 1 | 2022 | JIND: joint integration and discrimination for automated single-cell annotation · Bioinform. 2022 |
Bioinformatics and computational biology › genomics › genomic data compression
reference-based genome compression |
0.5 | 2 | 2016 | Comment on: 'ERGC: an efficient referential genome compression algorithm' · Bioinform. 2016 iDoComp: a compression scheme for assembled genomes · Bioinform. 2015 |
Bioinformatics and computational biology › gene expression analysis › gene co-expression analysis
co-expression module detection |
0.4 | 1 | 2020 | Comparison of single and module-based methods for modeling gene regulatory networks · Bioinform. 2020 |
Bioinformatics and computational biology › biological network › network biology › network inference
gene regulatory network inference |
0.4 | 1 | 2020 | Comparison of single and module-based methods for modeling gene regulatory networks · Bioinform. 2020 |
Bioinformatics and computational biology › biological network › network biology › network inference › gene regulatory network inference
module network inference |
0.4 | 1 | 2020 | Comparison of single and module-based methods for modeling gene regulatory networks · Bioinform. 2020 |
Bioinformatics and computational biology
genomics |
0.3 | 1 | 2025 | Interpretable Causal Representation Learning for Biological Data in the Pathway Space · ICLR 2025 |
Bioinformatics and computational biology › drug discovery
drug repurposing |
0.2 | 1 | 2024 | Ge N Nius : an ultrafast drug-target interaction inference method based on graph neural networks · Bioinform. 2024 |
Bioinformatics and computational biology › genomics
variant calling |
0.2 | 2 | 2018 | CALQ: compression of quality values of aligned sequencing data · Bioinform. 2018 FaStore: a space-saving solution for raw sequencing data · Bioinform. 2018 |
Bioinformatics and computational biology › omics data analysis
batch effect correction |
0.2 | 1 | 2022 | JIND: joint integration and discrimination for automated single-cell annotation · Bioinform. 2022 |
Coding theory
channel coding |
0.2 | 1 | 2013 | On the Design of a Novel Joint Network-Channel Coding Scheme for the Multiple Access Relay Channel · IEEE J. Sel. Areas Commun. 2013 |
Coding theory › error-correcting codes › decoding › iterative decoding › iterative decoding analysis
EXIT chart analysis |
0.2 | 1 | 2013 | On the Design of a Novel Joint Network-Channel Coding Scheme for the Multiple Access Relay Channel · IEEE J. Sel. Areas Commun. 2013 |
Coding theory › network coding
joint network-channel coding |
0.2 | 1 | 2013 | On the Design of a Novel Joint Network-Channel Coding Scheme for the Multiple Access Relay Channel · IEEE J. Sel. Areas Commun. 2013 |
Coding theory › error-correcting codes › decoding › iterative decoding
turbo-like iterative decoding |
0.2 | 1 | 2013 | On the Design of a Novel Joint Network-Channel Coding Scheme for the Multiple Access Relay Channel · IEEE J. Sel. Areas Commun. 2013 |
Image and video coding › video coding standards
MPEG video |
0.1 | 1 | 2021 | An Introduction to MPEG-G: The First Open ISO/IEC Standard for the Compression and Exchange of Genomic Sequencing Data · Proc. IEEE 2021 |
Image and video coding
video coding standards |
0.1 | 1 | 2021 | An Introduction to MPEG-G: The First Open ISO/IEC Standard for the Compression and Exchange of Genomic Sequencing Data · Proc. IEEE 2021 |
Bioinformatics and computational biology › bioinformatics infrastructure
high-throughput sequencing data management |
0.1 | 1 | 2019 | SPRING: a next-generation compressor for FASTQ data · Bioinform. 2019 |
Physical-layer communications › relaying
cooperative relaying |
0.0 | 1 | 2013 | On the Design of a Novel Joint Network-Channel Coding Scheme for the Multiple Access Relay Channel · IEEE J. Sel. Areas Commun. 2013 |
Routing and switching › packet forwarding › forwarding protocol
decode-and-forward relaying |
0.0 | 1 | 2013 | On the Design of a Novel Joint Network-Channel Coding Scheme for the Multiple Access Relay Channel · IEEE J. Sel. Areas Commun. 2013 |
Methods — techniques the papers use, named apart from their topics
variational autoencoder · 1.7causal representation learning · 1.7random access · 1.0compression · 1.0lossless compression · 0.8graph neural network · 0.8graph embedding · 0.8neural network · 0.6confidence thresholding · 0.6asymmetric alignment · 0.6monte carlo simulation · 0.3
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2025 | Interpretable Causal Representation Learning for Biological Data in the Pathway SpaceabstractPredicting the impact of genomic and drug perturbations in cellular function is crucial for understanding gene functions and drug effects, ultimately leading to improved therapies. To this end, Causal Representation Learning (CRL) constitutes one of the most promising approaches, as it aims to identify the latent factors that causally govern biological systems, thus facilitating the prediction of the effect of unseen perturbations. Yet, current CRL methods fail in reconciling their principled latent representations with known biological processes, leading to models that are not interpretable. To address this major issue, in this work we present SENA-discrepancy-VAE, a model based on the recently proposed CRL method discrepancy-VAE, that produces representations where each latent factor can be interpreted as the (linear) combination of the activity of a (learned) set of biological processes. To this extent, we present an encoder, SENA-$\delta$, that efficiently compute and map biological processes' activity levels to the latent causal factors. We show that SENA-discrepancy-VAE achieves predictive performances on unseen combinations of interventions that are comparable with its original, non-interpretable counterpart, while inferring causal latent factors that are biologically meaningful. Jesus de la Fuente Cedeño, Robert Lehmann 0002, Carlos Ruiz-Arenas, Jan Voges, Irene Marín-Goñi, Xabier Martinez de Morentin, David Gomez-Cabrero, Idoia Ochoa, Jesper Tegnér, Vincenzo Lagani, Mikel Hernaez |
ICLR | 11 |
| 2024 | Ge N Nius : an ultrafast drug-target interaction inference method based on graph neural networksabstractMOTIVATION: Drug-target interaction (DTI) prediction is a relevant but challenging task in the drug repurposing field. In-silico approaches have drawn particular attention as they can reduce associated costs and time commitment of traditional methodologies. Yet, current state-of-the-art methods present several limitations: existing DTI prediction approaches are computationally expensive, thereby hindering the ability to use large networks and exploit available datasets and, the generalization to unseen datasets of DTI prediction methods remains unexplored, which could potentially improve the development processes of DTI inferring approaches in terms of accuracy and robustness. RESULTS: In this work, we introduce GeNNius (Graph Embedding Neural Network Interaction Uncovering System), a Graph Neural Network (GNN)-based method that outperforms state-of-the-art models in terms of both accuracy and time efficiency across a variety of datasets. We also demonstrated its prediction power to uncover new interactions by evaluating not previously known DTIs for each dataset. We further assessed the generalization capability of GeNNius by training and testing it on different datasets, showing that this framework can potentially improve the DTI prediction task by training on large datasets and testing on smaller ones. Finally, we investigated qualitatively the embeddings generated by GeNNius, revealing that the GNN encoder maintains biological information after the graph convolutions while diffusing this information through nodes, eventually distinguishing protein families in the node embedding space. AVAILABILITY AND IMPLEMENTATION: GeNNius code is available at https://github.com/ubioinformat/GeNNius. Uxía Veleiro, Jesus de la Fuente Cedeño, Guillermo Serrano, Marija Pizurica, Mikel Casals, Antonio Pineda-Lucena, Silve Vicent, Idoia Ochoa, Olivier Gevaert, Mikel Hernaez |
Bioinform. | 10 |
| 2022 | JIND: joint integration and discrimination for automated single-cell annotationabstractMOTIVATION: An important step in the transcriptomic analysis of individual cells involves manually determining the cellular identities. To ease this labor-intensive annotation of cell-types, there has been a growing interest in automated cell annotation, which can be achieved by training classification algorithms on previously annotated datasets. Existing pipelines employ dataset integration methods to remove potential batch effects between source (annotated) and target (unannotated) datasets. However, the integration and classification steps are usually independent of each other and performed by different tools. We propose JIND (joint integration and discrimination for automated single-cell annotation), a neural-network-based framework for automated cell-type identification that performs integration in a space suitably chosen to facilitate cell classification. To account for batch effects, JIND performs a novel asymmetric alignment in which unseen cells are mapped onto the previously learned latent space, avoiding the need of retraining the classification model for new datasets. JIND also learns cell-type-specific confidence thresholds to identify cells that cannot be reliably classified. RESULTS: We show on several batched datasets that the joint approach to integration and classification of JIND outperforms in accuracy existing pipelines, and a smaller fraction of cells is rejected as unlabeled as a result of the cell-specific confidence thresholds. Moreover, we investigate cells misclassified by JIND and provide evidence suggesting that they could be due to outliers in the annotated datasets or errors in the original approach used for annotation of the target batch. AVAILABILITY AND IMPLEMENTATION: Implementation for JIND is available at https://github.com/mohit1997/JIND and the data underlying this article can be accessed at https://doi.org/10.5281/zenodo.6246322. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Mohit Goyal, Guillermo Serrano, Josepmaria Argemi, Ilan Shomorony, Mikel Hernaez, Idoia Ochoa |
Bioinform. | 5 |
| 2021 | An Introduction to MPEG-G: The First Open ISO/IEC Standard for the Compression and Exchange of Genomic Sequencing DataabstractThe development and progress of high-throughput sequencing technologies have transformed the sequencing of DNA from a scientific research challenge to practice. With the release of the latest generation of sequencing machines, the cost of sequencing a whole human genome has dropped to less than $\$ $ 600. Such achievements open the door to personalized medicine, where it is expected that genomic information of patients will be analyzed as a standard practice. However, the associated costs, related to storing, transmitting, and processing the large volumes of data, are already comparable to the costs of sequencing. To support the design of new and interoperable solutions for the representation, compression, and management of genomic sequencing data, the Moving Picture Experts Group (MPEG) jointly with working group 5 of ISO/TC276 “Biotechnology” has started to produce the ISO/IEC 23092 series, known as MPEG-G. MPEG-G does not only offer higher levels of compression compared with the state of the art but it also provides new functionalities, such as built-in support for random access in the compressed domain, support for data protection mechanisms, flexible storage, and streaming capabilities. MPEG-G only specifies the decoding syntax of compressed bitstreams, as well as a file format and a transport format. This allows for the development of new encoding solutions with higher degrees of optimization while maintaining compatibility with any existing MPEG-G decoder. Jan Voges, Mikel Hernaez, Marco Mattavelli, Jörn Ostermann |
Proc. IEEE | 2 |
| 2020 | Comparison of single and module-based methods for modeling gene regulatory networksabstractMOTIVATION: Gene regulatory networks describe the regulatory relationships among genes, and developing methods for reverse engineering these networks is an ongoing challenge in computational biology. The majority of the initially proposed methods for gene regulatory network discovery create a network of genes and then mine it in order to uncover previously unknown regulatory processes. More recent approaches have focused on inferring modules of co-regulated genes, linking these modules with regulatory genes and then mining them to discover new molecular biology. RESULTS: In this work we analyze module-based network approaches to build gene regulatory networks, and compare their performance to single gene network approaches. In the process, we propose a novel approach to estimate gene regulatory networks drawing from the module-based methods. We show that generating modules of co-expressed genes which are predicted by a sparse set of regulators using a variational Bayes method, and then building a bipartite graph on the generated modules using sparse regression, yields more informative networks than previous single and module-based network approaches as measured by: (i) the rate of enriched gene sets, (ii) a network topology assessment, (iii) ChIP-Seq evidence and (iv) the KnowEnG Knowledge Network collection of previously characterized gene-gene interactions. AVAILABILITY AND IMPLEMENTATION: The code is written in R and can be downloaded from https://github.com/mikelhernaez/linker. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Mikel Hernaez, Charles Blatti, Olivier Gevaert |
Bioinform. | 1 |
| 2020 | GPress: a framework for querying general feature format (GFF) files and expression files in a compressed formabstractMOTIVATION: Sequencing data are often summarized at different annotation levels for further analysis, generally using the general feature format (GFF) or its descendants, gene transfer format (GTF) and GFF3. Existing utilities for accessing these files, like gffutils and gffread, do not focus on reducing the storage space, significantly increasing it in some cases. We propose GPress, a framework for querying GFF files in a compressed form. GPress can also incorporate and compress expression files from both bulk and single-cell RNA-Seq experiments, supporting simultaneous queries on both the GFF and expression files. In brief, GPress applies transformations to the data which are then compressed with the general lossless compressor BSC. To support queries, GPress compresses the data in blocks and creates several index tables for fast retrieval. RESULTS: We tested GPress on several GFF files of different organisms, and showed that it achieves on average a 61% reduction in size with respect to gzip (the current de facto compressor for GFF files) while being able to retrieve all annotations for a given identifier or a range of coordinates in a few seconds (when run in a common laptop). In contrast, gffutils provides faster retrieval but doubles the size of the GFF files. When additionally linking an expression file, we show that GPress can reduce its size by more than 68% when compared to gzip (for both bulk and single-cell RNA-Seq experiments), while still retrieving the information within seconds. Finally, applying BSC to the data streams generated by GPress instead of to the original file shows a size reduction of more than 44% on average. AVAILABILITY AND IMPLEMENTATION: GPress is freely available at https://github.com/qm2/gpress. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Qingxi Meng, Idoia Ochoa, Mikel Hernaez |
Bioinform. | 3 |
| 2020 | GABAC: an arithmetic coding solution for genomic dataabstractMOTIVATION: In an effort to provide a response to the ever-expanding generation of genomic data, the International Organization for Standardization (ISO) is designing a new solution for the representation, compression and management of genomic sequencing data: the Moving Picture Experts Group (MPEG)-G standard. This paper discusses the first implementation of an MPEG-G compliant entropy codec: GABAC. GABAC combines proven coding technologies, such as context-adaptive binary arithmetic coding, binarization schemes and transformations, into a straightforward solution for the compression of sequencing data. RESULTS: We demonstrate that GABAC outperforms well-established (entropy) codecs in a significant set of cases and thus can serve as an extension for existing genomic compression solutions, such as CRAM. AVAILABILITY AND IMPLEMENTATION: The GABAC library is written in C++. We also provide a command line application which exercises all features provided by the library. GABAC can be downloaded from https://github.com/mitogen/gabac. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Jan Voges, Tom Paridaens, Fabian Müntefering, Liudmila S. Mainzer, Brian Bliss, Idoia Ochoa, Jan Fostier, Jörn Ostermann, Mikel Hernaez |
Bioinform. | 10 |
| 2019 | AliCo: A New Efficient Representation for SAM FilesabstractAs genome sequencing continues to become more cost-effective and affordable, more raw and aligned genomic files are expected to be generated in future years. In addition, due to the increase in the throughput of sequencing machines, the size of these files is significantly growing. In particular, aligned files (e.g., SAM/BAM) are used for further processing of the data, and hence efficient representation of these files is a pressing need. In this work we present AliCo, a new compression method tailored to the aligned data represented in the SAM format. We demonstrate through simulations on existing datasets that AliCo outperforms in compression ratio, on average, the state-of-the-art compressors for SAM files, achieving more than 85% reduction in size when operating in its lossless mode. AliCo also supports a variety of modes for lossy compression of the quality scores, including for the first time the recently proposed lossy compressor CALQ, which uses information from the aligned reads to adjust the level of quantization for each location of the genome (achieving more than 10× compression gains in high-coverage datasets). AliCo also supports optional compression of the reference sequence used for compression, hence guaranteeing exact reconstruction of the compressed data. Finally, AliCo allows to stream the data as it is being compressed, as well as to decompress the data as it is being received, potentially providing significant time savings. AliCo can be accessed at: https://github.com/iochoa/alico. Idoia Ochoa, Florian Baumgarte, Charles Hergenrother, Jan Voges, Mikel Hernaez |
DCC | 6 |
| 2019 | SPRING: a next-generation compressor for FASTQ dataabstractMOTIVATION: High-Throughput Sequencing technologies produce huge amounts of data in the form of short genomic reads, associated quality values and read identifiers. Because of the significant structure present in these FASTQ datasets, general-purpose compressors are unable to completely exploit much of the inherent redundancy. Although there has been a lot of work on designing FASTQ compressors, most of them lack in support of one or more crucial properties, such as support for variable length reads, scalability to high coverage datasets, pairing-preserving compression and lossless compression. RESULTS: In this work, we propose SPRING, a reference-free compressor for FASTQ files. SPRING supports a wide variety of compression modes and features, including lossless compression, pairing-preserving compression, lossy compression of quality values, long read compression and random access. SPRING achieves substantially better compression than existing tools, for example, SPRING compresses 195 GB of 25× whole genome human FASTQ from Illumina's NovaSeq sequencer to less than 7 GB, around 1.6× smaller than previous state-of-the-art FASTQ compressors. SPRING achieves this improvement while using comparable computational resources. AVAILABILITY AND IMPLEMENTATION: SPRING can be downloaded from https://github.com/shubhamchandak94/SPRING. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Shubham Chandak, Kedar Tatwawadi, Idoia Ochoa, Mikel Hernaez, Tsachy Weissman |
Bioinform. | 4 |
| 2018 | QVZ: lossy compression of quality valuesabstractBioinformatics (2015) 31(19), 3122–3129 The authors of the above article wish to inform readers that a post-production correction has been made to add missing funding information: NIH grant U01 CA198943. Greg Malysa, Mikel Hernaez, Idoia Ochoa, Milind Rao, Karthik Ganesan 0001, Tsachy Weissman |
Bioinform. | 2 |
| 2018 | FaStore: a space-saving solution for raw sequencing dataabstractMotivation: The affordability of DNA sequencing has led to the generation of unprecedented volumes of raw sequencing data. These data must be stored, processed and transmitted, which poses significant challenges. To facilitate this effort, we introduce FaStore, a specialized compressor for FASTQ files. FaStore does not use any reference sequences for compression and permits the user to choose from several lossy modes to improve the overall compression ratio, depending on the specific needs. Results: FaStore in the lossless mode achieves a significant improvement in compression ratio with respect to previously proposed algorithms. We perform an analysis on the effect that the different lossy modes have on variant calling, the most widely used application for clinical decision making, especially important in the era of precision medicine. We show that lossy compression can offer significant compression gains, while preserving the essential genomic information and without affecting the variant calling performance. Availability and implementation: FaStore can be downloaded from https://github.com/refresh-bio/FaStore. Supplementary information: Supplementary data are available at Bioinformatics online. Lukasz Roguski, Idoia Ochoa, Mikel Hernaez, Sebastian Deorowicz |
Bioinform. | 3 |
| 2018 | CALQ: compression of quality values of aligned sequencing dataabstractMotivation: Recent advancements in high-throughput sequencing technology have led to a rapid growth of genomic data. Several lossless compression schemes have been proposed for the coding of such data present in the form of raw FASTQ files and aligned SAM/BAM files. However, due to their high entropy, losslessly compressed quality values account for about 80% of the size of compressed files. For the quality values, we present a novel lossy compression scheme named CALQ. By controlling the coarseness of quality value quantization with a statistical genotyping model, we minimize the impact of the introduced distortion on downstream analyses. Results: We analyze the performance of several lossy compressors for quality values in terms of trade-off between the achieved compressed size (in bits per quality value) and the Precision and Recall achieved after running a variant calling pipeline over sequencing data of the well-known NA12878 individual. By compressing and reconstructing quality values with CALQ, we observe a better average variant calling performance than with the original data while achieving a size reduction of about one order of magnitude with respect to the state-of-the-art lossless compressors. Furthermore, we show that CALQ performs as good as or better than the state-of-the-art lossy compressors in terms of variant calling Recall and Precision for most of the analyzed datasets. Availability and implementation: CALQ is written in C ++ and can be downloaded from https://github.com/voges/calq. Contact: [email protected] or [email protected]. Supplementary information: Supplementary data are available at Bioinformatics online. Jan Voges, Jörn Ostermann, Mikel Hernaez |
Bioinform. | 3 |
| 2017 | GeneComp, a New Reference-Based Compressor for SAM FilesabstractThe affordability of DNA sequencing has led to unprecedented volumes of genomic data. These data must be stored, processed, and analyzed. The most popular format for genomic data is the SAM format, which contains information such as alignment, quality values, etc. These files are large (on the order of terabytes), which necessitates compression. In this work we propose a new reference-based compressor for SAM files, which can accommodate different levels of compression, based on the specific needs of the user. In particular, the proposed compressor GeneComp allows the user to perform lossy compression of the quality scores, which have been proven to occupy more than half of the compressed file (when losslessly compressed). We show that the proposed compressor GeneComp overall achieves better compression ratios than previously proposed algorithms when working on lossless mode. Reggy Long, Mikel Hernaez, Idoia Ochoa, Tsachy Weissman |
DCC | 2 |
| 2017 | Effect of lossy compression of quality scores on variant callingabstractRecent advancements in sequencing technology have led to a drastic reduction in genome sequencing costs. This development has generated an unprecedented amount of data that must be stored, processed, and communicated. To facilitate this effort, compression of genomic files has been proposed. Specifically, lossy compression of quality scores is emerging as a natural candidate for reducing the growing costs of storage. A main goal of performing DNA sequencing in population studies and clinical settings is to identify genetic variation. Though the field agrees that smaller files are advantageous, the cost of lossy compression, in terms of variant discovery, is unclear.Bioinformatic algorithms to identify SNPs and INDELs use base quality score information; here, we evaluate the effect of lossy compression of quality scores on SNP and INDEL detection. Specifically, we investigate how the output of the variant caller when using the original data differs from that obtained when quality scores are replaced by those generated by a lossy compressor. Using gold standard genomic datasets and simulated data, we are able to analyze how accurate the output of the variant calling is, both for the original data and that previously lossily compressed. We show that lossy compression can significantly alleviate the storage while maintaining variant calling performance comparable to that with the original data. Further, in some cases lossy compression can lead to variant calling performance that is superior to that using the original file. We envisage our findings and framework serving as a benchmark in future development and analyses of lossy genomic data compressors. Idoia Ochoa, Mikel Hernaez, Rachel L. Goldfeder, Tsachy Weissman, Euan A. Ashley |
Briefings Bioinform. | 2 |
| 2016 | An Evaluation Framework for Lossy Compression of Genome Sequencing Quality ValuesabstractThis paper provides the specification and an initial validation of an evaluation framework for the comparison of lossy compressors of genome sequencing quality values. The goal is to define reference data, test sets, tools and metrics that shall be used to evaluate the impact of lossy compression of quality values on human genome variant calling. The functionality of the framework is validated referring to two state-of-the-art genomic compressors. This work has been spurred by the current activity within the ISO/IEC SC29/WG11 technical committee (a.k.a. MPEG), which is investigating the possibility of starting a standardization activity for genomic information representation. Claudio Alberti, Noah M. Daniels, Mikel Hernaez, Jan Voges, Rachel L. Goldfeder, Ana A. Hernandez-Lopez, Marco Mattavelli, Bonnie Berger |
DCC | 3 |
| 2016 | A Cluster-Based Approach to Compression of Quality ScoresabstractMassive amounts of sequencing data are being generated thanks to advances in sequencing technology and a dramatic drop in the sequencing cost. Storing and sharing this large data has become a major bottleneck in the discovery and analysis of genetic variants that are used for medical inference. As such, lossless compression of this data has been proposed. Of the compressed data, more than 70% correspond to quality scores, which indicate the sequencing machine reliability when calling a particular basepair. Thus, to further improve the compression performance, lossy compression of quality scores is emerging as the natural candidate. Since the data is used for genetic variants discovery, lossy compressors for quality scores are analyzed in terms of their rate-distortion performance, as well as their effect on the variant callers. Previously proposed algorithms do not do well under all performance metrics, and are hence unsuitable for certain applications. In this work we propose a new lossy compressor that first performs a clustering step, by assuming all the quality scores sequences come from a mixture of Markov models. Then, it performs quantization of the quality scores based on the Markov models. Each quantizer targets a specific distortion to optimize for the overall rate-distortion performance. Finally, the quantized values are compressed by an entropy encoder. We demonstrate that the proposed lossy compressor outperforms the previously proposed methods under all analyzed distortion metrics. This suggests that the effect that the proposed algorithm will have on any downstream application will likely be less noticeable than that of previously proposed lossy compressors. Moreover, we analyze how the proposed lossy compressor affects Single Nucleotide Polymorphism (SNP) calling, and show that the variability introduced on the calls is considerably smaller than the variability that exists between different methodologies for SNP calling. Mikel Hernaez, Idoia Ochoa, Tsachy Weissman |
DCC | 1 |
| 2016 | Denoising of Quality Scores for Boosted Inference and Reduced StorageabstractMassive amounts of sequencing data are being generated thanks to advances in sequencing technology and a dramatic drop in the sequencing cost. Much of the raw data are comprised of nucleotides and the corresponding quality scores that indicate their reliability. The latter are more difficult to compress and are themselves noisy. Lossless and lossy compression of the quality scores has recently been proposed to alleviate the storage costs, but reducing the noise in the quality scores has remained largely unexplored. This raw data is processed in order to identify variants; these genetic variants are used in important applications, such as medical decision making. Thus improving the performance of the variant calling by reducing the noise contained in the quality scores is important. We propose a denoising scheme that reduces the noise of the quality scores and we demonstrate improved inference with this denoised data. Specifically, we show that replacing the quality scores with those generated by the proposed denoiser results in more accurate variant calling in general. Moreover, a consequence of the denoising is that the entropy of the produced quality scores is smaller, and thus significant compression can be achieved with respect to lossless compression of the original quality scores. We expect our results to provide a baseline for future research in denoising of quality scores. The code used in this work as well as a Supplement with all the results are available at http://web.stanford.edu/~iochoa/DCCdenoiser_CodeAndSupplement.zip. Idoia Ochoa, Mikel Hernaez, Rachel L. Goldfeder, Tsachy Weissman, Euan A. Ashley |
DCC | 2 |
| 2016 | CROMqs: an infinitesimal successive refinement lossy compressor for the quality scoresabstractMassive amounts of sequencing data are being generated thanks to advances in sequencing technology and a dramatic drop in the sequencing cost. Much of the data are comprised of nucleotides and the corresponding quality scores that indicate their reliability. The latter are more difficult to compress and are themselves noisy. As a result, lossy compression of the quality scores has recently been proposed to alleviate the storage costs. Further, it has been shown that lossy compression, at some specific rates, can achieve a performance on variant calling similar to that achieved with the lossless compressed data. We propose CROMqs, a new lossy compressor for the quality scores with the property of "infinitesimal successive refinability". This property allows the decoder to decompress the data iteratively without the need of agreeing with the encoder on a specific rate prior to compression. This characteristic is particularly amenable in practice, as in most cases the appropriate rate at which the lossy compressor should operate can not be established prior to compression. Further, this property can be of interest in scenarios involving streaming of genomic data. CROMqs is the first infinitesimal successive refinement lossy compressor for the quality scores in the literature, and we show that it obtains a comparable rate-distortion performance to previously proposed algorithms. Moreover, we also show that CROMqs achieves a comparable performance on variant calling to that of the lossless compressed data. Idoia Ochoa, Albert No, Mikel Hernaez, Tsachy Weissman |
ITW | 3 |
| 2016 | Comment on: 'ERGC: an efficient referential genome compression algorithm'abstractMOTIVATION: Data compression is crucial in effective handling of genomic data. Among several recently published algorithms, ERGC seems to be surprisingly good, easily beating all of the competitors. RESULTS: We evaluated ERGC and the previously proposed algorithms GDC and iDoComp, which are the ones used in the original paper for comparison, on a wide data set including 12 assemblies of human genome (instead of only four of them in the original paper). ERGC wins only when one of the genomes (referential or target) contains mixed-cased letters (which is the case for only the two Korean genomes). In all other cases ERGC is on average an order of magnitude worse than GDC and iDoComp. CONTACT: [email protected], [email protected] SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Sebastian Deorowicz, Szymon Grabowski, Idoia Ochoa, Mikel Hernaez, Tsachy Weissman |
Bioinform. | 4 |
| 2016 | GTRAC: fast retrieval from compressed collections of genomic variantsabstractMOTIVATION: The dramatic decrease in the cost of sequencing has resulted in the generation of huge amounts of genomic data, as evidenced by projects such as the UK10K and the Million Veteran Project, with the number of sequenced genomes ranging in the order of 10 K to 1 M. Due to the large redundancies among genomic sequences of individuals from the same species, most of the medical research deals with the variants in the sequences as compared with a reference sequence, rather than with the complete genomic sequences. Consequently, millions of genomes represented as variants are stored in databases. These databases are constantly updated and queried to extract information such as the common variants among individuals or groups of individuals. Previous algorithms for compression of this type of databases lack efficient random access capabilities, rendering querying the database for particular variants and/or individuals extremely inefficient, to the point where compression is often relinquished altogether. RESULTS: We present a new algorithm for this task, called GTRAC, that achieves significant compression ratios while allowing fast random access over the compressed database. For example, GTRAC is able to compress a Homo sapiens dataset containing 1092 samples in 1.1 GB (compression ratio of 160), while allowing for decompression of specific samples in less than a second and decompression of specific variants in 17 ms. GTRAC uses and adapts techniques from information theory, such as a specialized Lempel-Ziv compressor, and tailored succinct data structures. AVAILABILITY AND IMPLEMENTATION: The GTRAC algorithm is available for download at: https://github.com/kedartatwawadi/GTRAC CONTACT: : [email protected] SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Kedar Tatwawadi, Mikel Hernaez, Idoia Ochoa, Tsachy Weissman |
Bioinform. | 2 |
| 2015 | QVZ: lossy compression of quality valuesabstractMOTIVATION: Recent advancements in sequencing technology have led to a drastic reduction in the cost of sequencing a genome. This has generated an unprecedented amount of genomic data that must be stored, processed and transmitted. To facilitate this effort, we propose a new lossy compressor for the quality values presented in genomic data files (e.g. FASTQ and SAM files), which comprise roughly half of the storage space (in the uncompressed domain). Lossy compression allows for compression of data beyond its lossless limit. RESULTS: The proposed algorithm QVZ exhibits better rate-distortion performance than the previously proposed algorithms, for several distortion metrics and for the lossless case. Moreover, it allows the user to define any quasi-convex distortion function to be minimized, a feature not supported by the previous algorithms. Finally, we show that QVZ-compressed data exhibit better performance in the genotyping than data compressed with previously proposed algorithms, in the sense that for a similar rate, a genotyping closer to that achieved with the original quality values is obtained. AVAILABILITY AND IMPLEMENTATION: QVZ is written in C and can be downloaded from https://github.com/mikelhernaez/qvz. CONTACT: [email protected] or [email protected] or [email protected] SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Greg Malysa, Mikel Hernaez, Idoia Ochoa, Milind Rao, Karthik Ganesan 0001, Tsachy Weissman |
Bioinform. | 2 |
| 2015 | iDoComp: a compression scheme for assembled genomesabstractMOTIVATION: With the release of the latest next-generation sequencing (NGS) machine, the HiSeq X by Illumina, the cost of sequencing a Human has dropped to a mere $4000. Thus we are approaching a milestone in the sequencing history, known as the $1000 genome era, where the sequencing of individuals is affordable, opening the doors to effective personalized medicine. Massive generation of genomic data, including assembled genomes, is expected in the following years. There is crucial need for compression of genomes guaranteed of performing well simultaneously on different species, from simple bacteria to humans, which will ease their transmission, dissemination and analysis. Further, most of the new genomes to be compressed will correspond to individuals of a species from which a reference already exists on the database. Thus, it is natural to propose compression schemes that assume and exploit the availability of such references. RESULTS: We propose iDoComp, a compressor of assembled genomes presented in FASTA format that compresses an individual genome using a reference genome for both the compression and the decompression. In terms of compression efficiency, iDoComp outperforms previously proposed algorithms in most of the studied cases, with comparable or better running time. For example, we observe compression gains of up to 60% in several cases, including H.sapiens data, when comparing with the best compression performance among the previously proposed algorithms. AVAILABILITY: iDoComp is written in C and can be downloaded from: http://www.stanford.edu/~iochoa/iDoComp.html (We also provide a full explanation on how to run the program and an example with all the necessary files to run it.). Idoia Ochoa, Mikel Hernaez, Tsachy Weissman |
Bioinform. | 2 |
| 2013 | Teaching information theory via a simulation tool for communications systemsabstractIn this paper, an interactive tool for learning the fundamental concepts of communications systems from an information theory point of view is presented. This tool is composed of two parts: a C++ library and a Graphical User Interface application in Matlab. The C++ library is designed following an object-oriented structure and is fully scalable (it is open for future updates). The Matlab-GUI application is a friendly interface that aids undergraduate students to understand the theory. Some of the tool's capabilities are illustrated through classroom examples. In addition, this tool is designed to improve the students' theoretical knowledge of information theory. Iker Alustiza, Mikel Hernaez, Xabier Insausti, Pedro M. Crespo |
EDUCON | 2 |
| 2013 | A Decode-and-Forward Scheme for Multihop Wireless NetworksabstractIn this paper, we propose a Decode-and-Forward (DF) relaying scheme for the multihop transmission in wireless networks, where the information generated by an independent source has to be sent to a far destination based on multiplerelay cooperation. The proposed DF scheme blends together convolutional channel coding with linear combination of blocks of data over a finite field. The performance of the proposed system is compared with reference schemes previously proposed in the literature. We provide simulation results showing that using blocks of K = 13 information bits, our scheme clearly outperforms these reference schemes that use blocks of K = 1500 information bits. Moreover, we show that the proposed DF scheme is suitable for large multi-hop networks with relays that share their resources with other networks since: 1) a negligible performance degradation is obtained for adding more hops; and 2) most of the iterative gain at the decoding is achieved in less than 10 iterations. Mikel Hernaez, Iker Alustiza, Pedro M. Crespo, Javier Del Ser |
VTC Fall | 1 |
| 2013 | On the Design of a Novel Joint Network-Channel Coding Scheme for the Multiple Access Relay ChannelabstractThis paper proposes a novel joint non-binary network-channel code for the Time-Division Decode-and-Forward Multiple Access Relay Channel (TD-DF-MARC), where the relay linearly combines — over a non-binary finite field — the coded sequences from the source nodes. A method based on an EXIT chart analysis is derived for selecting the best coefficients of the linear combination. Moreover, it is shown that for different setups of the system, different coefficients should be chosen in order to improve the performance. This conclusion contrasts with previous works where a random selection was considered. Monte Carlo simulations show that the proposed scheme outperforms, in terms of its gap to the outage probabilities, the previously published joint network-channel coding approaches. Besides, this gain is achieved by using very short-length codewords, which makes the scheme particularly attractive for low-latency applications. Mikel Hernaez, Pedro M. Crespo, Javier Del Ser |
IEEE J. Sel. Areas Commun. | 1 |
| 2011 | A Novel Scheme for Message-Forwarding in Multi-Hop Ad-Hoc Wireless NetworksabstractIn this paper, we propose a novel decode-combine-forward scheme for the multi-hop transmission in ad-hoc wireless networks, where the information generated by two independent sources has to be sent to a common destination based on multiple-relay cooperation. The proposed scheme blends together LDPC channel coding with linear combination of blocks of data over a finite field. The performance of the proposed system is compared with two reference schemes previously proposed on the literature. We provide simulation results which show that our scheme clearly outperforms these reference systems. Mikel Hernaez, Pedro M. Crespo |
VTC Spring | 1 |
| 2011 | Joint Non-Binary LDPC-BICM and Network Coding with Iterative Decoding for the Multiple Access Relay ChannelabstractIn this paper we present a novel joint network-channel coding scheme for the time-division Multiple Access Relay Channel (MARC), which combines Bit-Interleaved Coded Modulation with iterative decoding (BICM-ID) based on nonbinary Low-Density Parity Check (LDPC) codes, along with the linear combination of blocks of data at the relay. The common receiver iteratively exchanges soft information between a joint soft demapper and the LDPC decoder associated to the transmitting nodes. The performance of the proposed system is compared, in terms of Frame Error Rate (FER) and through intensive Monte Carlo simulations, with the corresponding theoretical outage rate for different values of the spectral efficiency of the overall setup. Two main conclusions are drawn: 1) small FER degradation is obtained as the spectral efficiency increases; and 2) no diversity is lost with respect to the theoretical outage rate. Mikel Hernaez, Pedro M. Crespo, Javier Del Ser |
VTC Spring | 1 |