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Sequencing 6 Min read

Whole exome vs. whole genome sequencing

Reading the key chapters versus reading the entire book. Understanding when a narrower view is sufficient — and when you need the full picture.

The Library Analogy

Imagine your genome as a library of 3,000 books. The vast majority of those books are reference material, indexes, and notes. Only about 1-2% of the shelves contain the active recipes — the genes that get translated into proteins. This protein-coding part of the genome is called the exome.

Whole exome sequencing (WES) reads only those active recipe books. Whole genome sequencing (WGS) reads the entire library — recipes, indexes, and everything in between.

Why WES Was Popular First

For years, WES was the practical choice. It was much cheaper, faster, and easier to interpret. Most known disease-causing variants live in the exome, so for diagnosing genetic conditions WES often gave a strong answer for a fraction of the cost.

If you only care about the parts of the genome we already understand well, WES is a reasonable option.

What WES Misses

The 98-99% of the genome outside the exome isn't empty — it controls *when, where, and how much* of each protein gets made. Mutations in these regulatory regions can cause real disease, and WES sees none of them.

WES also misses structural changes, repeat expansions, and complex rearrangements that span large regions of the genome. As genetics research has matured, more and more important findings have come from outside the exome.

Why WGS Is Becoming the Standard

Two things changed. First, sequencing costs dropped dramatically — WGS today costs roughly what WES did a few years ago. Second, we now understand far more about non-coding DNA, so the extra data is no longer wasted.

WGS gives you:

- Complete coverage of every gene (more reliable than WES even within the exome)

- Visibility into regulatory regions

- Better detection of structural variants

- A future-proof dataset — as science improves, your genome can be re-analyzed without needing a new sample

Which Does bioRitma Use?

bioRitma uses whole genome sequencing. We believe it's the right long-term choice: you sequence once, and as new research connects more variants to traits and conditions, your insights keep getting richer without another sample.

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