Tag: wes

Whole exome sequencing covers roughly 1-2% of the genome at high depth. What the files contain, which tools we use, and where the coverage gaps are.

A practical comparison of whole-genome and whole-exome sequencing, with the pipeline, tools, flags, and failure modes we would use to analyze either one.

How exome capture works, the analysis pipeline for your own FASTQs, and the failure modes that decide whether an exome is the right assay.

A working pipeline for whole-exome data from FASTQ to VCF, with the filters that matter and the places where exome capture loses to a whole genome.

Whole exome sequencing reads the ~1-2% of your genome that codes for protein. What it finds, what it silently misses, and how to read the files yourself.