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Article

Validation and assessment of variant calling pipelines for next-generation sequencing.

Human genomics - 30 Jul 2014

Pirooznia Mehdi, Kramer Melissa, Parla Jennifer, Goes Fernando S, Potash James B, McCombie W Richard, Zandi Peter P

Abstract excerpt

BACKGROUND: The processing and analysis of the large scale data generated by next-generation sequencing (NGS) experiments is challenging and is a burgeoning area of new methods development. Several new bioinformatics tools have been developed for calling sequence variants from NGS data. Here, we validate the variant calling of these tools and compare their relative accuracy to determine which data processing...

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Identifiers

PMID: 25078893
DOI: 10.1186/1479-7364-8-14
PMCID: PMC4129436

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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