3 ms·
> It gets even worse when you consider samples from tumours, where biologically relevant mutations are often found in only a subset of cells. To discover these
by mmt 8y ago
> It gets even worse when you consider samples from tumours, where biologically relevant mutations are often found in only a subset of cells. To discover these mutations, a coverage of 100x is often recommend
This point brings up another, implicit, scale multiplier that the average person might assume doesn't exist: that a single individual could need multiple sequences stored.
One can't just estimate required total (uncompressed) storage by multiplying population (mod monozygotic multiple births and chimerism) by the size of one instance of raw sequencing data.
- breckuh 8y ago> a single individual could need multiple sequences stored. And multiple sequences could be hundreds, thousands, or more. Example: single-cell RNAseq pipelines that generate sequences for 10k cells at once. Perhaps in the future--as tech improves--the devices themselves might be equipped to run more real-time in memory QC and emit less--but more accurate--data? I believe this is somewhat how CERN does it, where they only record a filtered subset of the data that comes in.