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Article

Set-theory based benchmarking of three different variant callers for targeted sequencing.

BMC bioinformatics - 7 Jan 2021

Molina-Mora Jose Arturo, Solano-Vargas Mariela

Abstract excerpt

BACKGROUND: Next generation sequencing (NGS) technologies have improved the study of hereditary diseases. Since the evaluation of bioinformatics pipelines is not straightforward, NGS demands effective strategies to analyze data that is of paramount relevance for decision making under a clinical scenario. According to the benchmarking framework of the Global Alliance for Genomics and Health (GA4GH), we implemented...

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Identifiers

PMID: 33413082
DOI: 10.1186/s12859-020-03926-3
PMCID: PMC7791862

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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