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

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

Exome sequencing approach is extensively used in research and diagnostic laboratories to discover pathological variants and study genetic architecture of human diseases. Even if present platforms produce high quality sequencing data, false positives variants remain an issue and can confound subsequent analysis and result interpretation. Here, we propose a new tool named GARFIELD-NGS (Genomic vA...

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ژورنال

عنوان ژورنال: Bioinformatics

سال: 2018

ISSN: 1367-4803,1460-2059

DOI: 10.1093/bioinformatics/bty303