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Article

GATK hard filtering: tunable parameters to improve variant calling for next generation sequencing targeted gene panel data.

BMC bioinformatics - 23 Mar 2017

De Summa Simona, Malerba Giovanni, Pinto Rosamaria, Mori Antonio, Mijatovic Vladan, Tommasi Stefania

Abstract excerpt

BACKGROUND: NGS technology represents a powerful alternative to the standard Sanger sequencing in the context of clinical setting. The proprietary software that are generally used for variant calling often depend on preset parameters that may not fit in a satisfactory manner for different genes. GATK, which is widely used in the academic world, is rich in parameters for variant calling. However the self-adjusting...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28361668
DOI: 10.1186/s12859-017-1537-8
PMCID: PMC5374681

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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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