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nf-100GMX-variant-summarizer v1

Authors :
Israel Aguilar Ordoñez
Publication Year :
2020
Publisher :
ZappyLab, Inc., 2020.

Abstract

Nextflow pipeline used to count variants for the 100GMX project 'nf-100GMX-variant-summarizer' is a pipeline tool that counts variants in a VEPextended annotated VCF file. This pipeline generates 3 outputs: 1) a TSV file with the total number of SNV and indels 2) a TSV file with per sample counts for variants of type SNV, indel, novel, worldwide singletons, clinvar, gwascat and pharmgkb 3) a PDF file with the number of discernible variants in sample groups of interest. Important note: input file must be previously annotated by https://github.com/Iaguilaror/nf-VEPextended

Details

Database :
OpenAIRE
Accession number :
edsair.doi...........39a167c72910e458a45ae89cf6f1b7ab
Full Text :
https://doi.org/10.17504/protocols.io.bkv6kw9e