epi2me-labs/wf-human-variation

This is stars and forks stats for /epi2me-labs/wf-human-variation repository. As of 30 Apr, 2024 this repository has 55 stars and 26 forks.

Human variation workflow This repository contains a nextflow workflow for analysing variation in human genomic data. Specifically this workflow can perform the following: basecalling of FAST5 (or POD5) sequencing data diploid variant calling structural variant calling analysis of modified base calls copy number variant calling short tandem repeat (STR) expansion genotyping The wf-human-variation workflow consolidates the small variant calling from the previous wf-human-snp, structural variant calling...