Article

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS

2017-06-14

Abstract excerpt

<h4>Summary</h4> Exome sequencing approach is extensively used in research and diagnostic laboratories to discover pathological variants and study genetic architecture of human diseases. However, a significant proportion of identified genetic variants are actually false positive calls, and this pose serious challenges for variants interpretation. Here, we propose a new tool named GARFIELD-NGS (Genomic vARiants FI...

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Identifiers and source

Literature Corpus work: 79937004-a64b-56b7-b8f1-830332630fb7
DOI: 10.1101/149146

Open publication

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