Tag: exome

A technical account of exome sequencing: capture chemistry, coverage statistics, and the failure modes that decide between WES and WGS.

A working pipeline for human exome data with BWA-MEM, GATK HaplotypeCaller and VEP, with the flags that matter and the failure modes.

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.

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.

What whole exome sequencing covers, where capture fails, and how to check the quality of an exome you already own.

A gene panel is a subset of an exome, and an exome is about 1.5% of a genome. Here's how the three differ in coverage, cost, file sizes, and what you can re-analyze later.

A line-by-line breakdown of exome sequencing prices in 2026: raw-data-only versus clinical CLIA reports, what drives the spread, and what the files look like when they land.

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.

A breakdown of WES pricing: research-grade versus CLIA-clinical, what drives the per-sample cost, how trios are billed, and why the sequencing is the cheap part of the project.