What Whole Exome Sequencing (WES) Measures, and When to Choose It Over a Genome
A technical account of exome sequencing: capture chemistry, coverage statistics, and the failure modes that decide between WES and WGS.
Tag: wes
6 posts
What WES Data Is and How to Work With It
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.
WGS vs WES: Which to Sequence, and How to Analyze It
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.
Whole Exome Sequencing: What It Covers, What It Misses, and How to Analyze It
How exome capture works, the analysis pipeline for your own FASTQs, and the failure modes that decide whether an exome is the right assay.
How to Analyze Your Own Exome Sequencing Data
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.
What WES Testing Is and When It Falls Short
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.