Variant calling

install VEP for annotating variants

VEP is one of the most commonly used variants annotation tools along with annovar, snpEff, but the installation and config can be very intimidating.

Scaling variant detection pipelines for whole genome sequencing analysis from Blue collar bioinformatics

Moving from exome to whole genome sequencing introduces a myriad of scaling and informatics challenges. In addition to the biological component of correctly…

what are phased and unphased genotypes?

I was reading about the format of the VCF file

Framework for evaluating variant detection methods: comparison of aligners and callers

Developing pipelines for detecting variants from high throughput sequencing data is challenging due to rapidly changing algorithms and relatively low…