Pairwise alignment of DNA sequencing data is a ubiquitous task in bioinformatics and typically represents a heavy computational burden. A standard approach to speed up this task is to compute “sketches” of the DNA reads (typically via hashing-based techniques) that allow the efficient computation of pairwise alignment scores. We propose a rate-distortion framework to study the problem of computing sketches that achieve the optimal tradeoff between sketch size and alignment estimation distortion. We consider the simple setting of i.i.d. error-free sources of length$n$and introduce a new sketching algorithm called “locational hashing.” While standard approaches in the literature based on min-hashes require$B=(1/D)\cdot O(\log n)$bits to achieve a distortion$D$, our proposed approach only requires$B=\log^{2}(1/D)\cdot O(1)$bits. This can lead to significant computational savings in pairwise alignment estimation.

Pairwise alignment of DNA sequencing data is a ubiquitous task in bioinformatics and typically represents a heavy computational burden. State-of-the-art approaches to speed up this task use hashing to identify short segments (k-mers) that are shared by pairs of reads, which can then be used to estimate alignment scores. However, when the number of reads is large, accurately estimating alignment scores for all pairs is still very costly. Moreover, in practice, one is only interested in identifying pairs of reads with large alignment scores. In this work, we propose a new approach to pairwise alignment estimation based on two key new ingredients. The first ingredient is to cast the problem of pairwise alignment estimation under a general framework of rank-one crowdsourcing models, where the workers' responses correspond to k-mer hash collisions. These models can be accurately solved via a spectral decomposition of the response matrix. The second ingredient is to utilise a multi-armed bandit algorithm to adaptively refine this spectral estimator only for read pairs that are likely to have large alignments. The resulting algorithm iteratively performs a spectral decomposition of the response matrix for adaptively chosen subsets of the read pairs.

Computing the medoid of a large number of points in high-dimensional space is an increasingly common operation in many data science problems. We present an algorithm Med-dit to compute the medoid with high probability, which uses $O(n\log n)$ distance evaluations. Med-dit is based on a connection with the Multi-Armed Bandit problem. We evaluate the performance of Med-dit empirically on the Netflix-prize and single-cell RNA-seq datasets, containing hundreds of thousands of points living in tens of thousands of dimensions, and observe a $5$-$10$x improvement in performance over the current state of the art. We have released the code of Med-dit and our empirical results at https://github.com/bagavi/Meddit.

Motivated by applications in domains such as social networks and computational biology, we study the problem of community recovery in graphs with locality. In this problem, pairwise noisy measurements of whether two nodes are in the same community or different communities come mainly or exclusively from nearby nodes rather than uniformly sampled between all node pairs, as in most existing models. We present two algorithms that run nearly linearly in the number of measurements and which achieve the information limits for exact recovery.

Earlier formulations of the DNA assembly problem were all in the context of perfect assembly; i.e., given a set of reads from a long genome sequence, is it possible to perfectly reconstruct the original sequence? In practice, however, it is very often the case that the read data is not sufficiently rich to permit unambiguous reconstruction of the original sequence. While a natural generalization of the perfect assembly formulation to these cases would be to consider a rate-distortion framework, partial assemblies are usually represented in terms of an assembly graph, making the definition of a distortion measure challenging. In this work, we introduce a distortion function for assembly graphs that can be understood as the logarithm of the number of Eulerian cycles in the assembly graph, each of which correspond to a candidate assembly that could have generated the observed reads. We also introduce an algorithm for the construction of an assembly graph and analyze its performance on real genomes.

Humans have $23$ pairs of homologous chromosomes. The homologous pairs are almost identical pairs of chromosomes. For the most part, differences in homologous chromosome occur at certain documented positions called single nucleotide polymorphisms (SNPs).A haplotype of an individual is the pair of sequences of SNPs on the two homologous chromosomes. In this paper, we study the problem of inferring haplotypes of individuals from mate-pair reads of their genome. We give a simple formula for the coverage needed for haplotype assembly, under a generative model. The analysis here leverages connections of this problem with decoding convolutional codes.

Regenerating codes and codes with locality are two coding schemes that have recently been proposed, which in addition to ensuring data collection and reliability, also enable efficient node repair. In a situation where one is attempting to repair a failed node, regenerating codes seek to minimize the amount of data downloaded for node repair, while codes with locality attempt to minimize the number of helper nodes accessed. This paper presents results in two directions. In one, this paper extends the notion of codes with locality so as to permit local recovery of an erased code symbol even in the presence of multiple erasures, by employing local codes having minimum distance >2. An upper bound on the minimum distance of such codes is presented and codes that are optimal with respect to this bound are constructed. The second direction seeks to build codes that combine the advantages of both codes with locality as well as regenerating codes. These codes, termed here as codes with local regeneration, are codes with locality over a vector alphabet, in which the local codes themselves are regenerating codes. We derive an upper bound on the minimum distance of vector-alphabet codes with locality for the case when their constituent local codes have a certain uniform rank accumulation property. This property is possessed by both minimum storage regeneration (MSR) and minimum bandwidth regeneration (MBR) codes. We provide several constructions of codes with local regeneration which achieve this bound, where the local codes are either MSR or MBR codes. Also included in this paper, is an upper bound on the minimum distance of a general vector code with locality as well as the performance comparison of various code constructions of fixed block length and minimum distance.

Regenerating codes and codes with locality are two schemes that have recently been proposed to ensure data collection and reliability in a distributed storage network. In a situation where one is attempting to repair a failed node, regenerating codes seek to minimize the amount of data downloaded for node repair, while codes with locality attempt to minimize the number of helper nodes accessed. In this paper, we provide several constructions for a class of vector codes with locality in which the local codes are regenerating codes, that enjoy both advantages. We derive an upper bound on the minimum distance of this class of codes and show that the proposed constructions achieve this bound. The constructions include both the cases where the local regenerating codes correspond to the MSR as well as the MBR point on the storage-repair-bandwidth tradeoff curve of regenerating codes.

Node failures are inevitable in distributed storage systems (DSS). To enable efficient repair when faced with such failures, two main techniques are known: Regenerating codes, i.e., codes that minimize the total repair bandwidth; and codes with locality, which minimize the number of nodes participating in the repair process. This paper focuses on regenerating codes with locality, using pre-coding based on Gabidulin codes, and presents constructions that utilize minimum bandwidth regenerating (MBR) local codes. The constructions achieve maximum resilience (i.e., optimal minimum distance) and have maximum capacity (i.e., maximum rate). Finally, the same pre-coding mechanism can be combined with a subclass of fractional-repetition codes to enable maximum resilience and repair-by-transfer simultaneously.

Motivated by applications to distributed storage, Gopalan et al recently introduced the interesting notion of information-symbol locality in a linear code. By this it is meant that each message symbol appears in a parity-check equation associated with small Hamming weight, thereby enabling recovery of the message symbol by examining a small number of other code symbols. This notion is expanded to the case when all code symbols, not just the message symbols, are covered by such “local” parity. In this paper, we extend the results of Gopalan et. al. so as to permit recovery of an erased code symbol even in the presence of errors in local parity symbols. We present tight bounds on the minimum distance of such codes and exhibit codes that are optimal with respect to the local error-correction property. As a corollary, we obtain an upper bound on the minimum distance of a concatenated code.