EDBT 2026 Demo / reviewers in the wild / expert
Jose-Mario Capo-Chichi
dblp:319/1349
· DBLP profile ↗
1ranked-venue papers
0as first author
1since 2021 · last 2022
—ORCID · none
Domains — the database's venue-derived domains; a paper can count in several
Applied, interdisciplinary, general and emerging computing · 1 · 1 since 2021
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
1 paper |
Bioinformatics and computational biology · 100% |
Topics — the 2 heaviest of 2, each with the papers that count most for it
| Topic | Weight | Papers | Last | Evidence papers |
|---|---|---|---|---|
Bioinformatics and computational biology › genomics
next-generation sequencing data analysis |
0.6 | 1 | 2022 | SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data · Bioinform. 2022 |
Bioinformatics and computational biology › sequence analysis
mutation detection |
0.2 | 1 | 2022 | SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data · Bioinform. 2022 |
Methods — techniques the papers use, named apart from their topics
variant calling · 0.6
| Year | Publication | Venue | Position |
|---|---|---|---|
| 2022 | SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived dataabstractMOTIVATION: Single-molecule molecular inversion probes (smMIPs) provide an exceptionally cost-effective and modular approach for routine or large-cohort next-generation sequencing. However, processing the derived raw data to generate highly accurate variants calls remains challenging. RESULTS: We introduce SmMIP-tools, a comprehensive computational method that promotes the detection of single nucleotide variants and short insertions and deletions from smMIP-based sequencing. Our approach delivered near-perfect performance when benchmarked against a set of known mutations in controlled experiments involving DNA dilutions and outperformed other commonly used computational methods for mutation detection. Comparison against clinically approved diagnostic testing of leukaemia patients demonstrated the ability to detect both previously reported variants and a set of pathogenic mutations that did not pass detection by clinical testing. Collectively, our results indicate that increased performance can be achieved when tailoring data processing and analysis to its related technology. The feasibility of using our method in research and clinical settings to benefit from low-cost smMIP technology is demonstrated. AVAILABILITY AND IMPLEMENTATION: The source code for SmMIP-tools, its manual and additional scripts aimed to foster large-scale data processing and analysis are all available on github (https://github.com/abelson-lab/smMIP-tools). Raw sequencing data generated in this study have been submitted to the European Genome-Phenome Archive (EGA; https://ega-archive.org) and can be accessed under accession number EGAS00001005359. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online. Jessie J. F. Medeiros, Jose-Mario Capo-Chichi, Liran I. Shlush, John E. Dick, Andrea Arruda, Mark D. Minden, Sagi Abelson |
Bioinform. | 2 |