hap-py

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Whole exome sequencing (WES) germline variant analysis of NA12878: bwa, bcftools and VEP pipeline benchmarked against GIAB v4.2.1 with hap.py

bash benchmarking bioinformatics genomics reproducible-research ngs variant-calling vep samtools bwa bcftools whole-exome-sequencing variant-annotation grch38 germline-variants giab hap-py na12878

Variant calling benchmarking on GIAB HG002 (WES chr22) using hap.py; SNP/INDEL Precision/Recall/F1.

bioinformatics ngs gatk variant-calling bwa giab hg002 hap-py

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