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Article

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

Bioinformatics (Oxford, England) - 1 Sept 2018

Ravasio Viola, Ritelli Marco, Legati Andrea, Giacopuzzi Edoardo

Abstract excerpt

Summary: 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 challenge for variants interpretation. Here, we propose a new tool named Genomic vARiants FIltering by dEep...

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PMID: 29668842
DOI: 10.1093/bioinformatics/bty303

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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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