3 ms·
Weird this is here... this is a well known result, such studies have been coming out for at least 5 years. The value proposition for whole exomes is diminishin
by Gatsky 7y ago
Weird this is here... this is a well known result, such studies have been coming out for at least 5 years.
The value proposition for whole exomes is diminishing as sequencing itself gets cheaper ie might as well do a whole genome. Exomes are still useful in some situations, eg cancer or formalin fixed tissue.
- rotexo 7y agoWhole genomes bring their own complications. You will have tons of variants of unknown significance in each patient. Then you would want functional data to see if there is an impact on transcription/translation of the protein, and the tissue of interest might not be accessible for such an analysis. There is some interesting stuff on the horizon—like humanizing homologous genes in C. elegans and CRISPRing in the mutation of interest, then doing functional studies in the worm. Not perfect, but it could give you functional information in a clinically relevant time frame.