Whole exome sequencing (WES) is a genomic technique for sequencing all of the protein-coding regions of genes in a genome. Whole genome sequencing (WGS) is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time.

For this models, we will provide a pipeline to detect copy ratio alterations, more familiarly copy number variants (CNVs), as well as allelic segments in a single sample using GATK4.

Pipeline

This pipeline starts by reading in the raw fastq or BQSR bam files, and return a segment file