
Genomics Cow
4.3K posts

Genomics Cow
@GenomicsCow
Original and probably disagreeable perspectives on genomics. Not sure when I'm joking and when I'm being serious. Opinions my own, not the herd’s.



Tips for thriving when there’s change in top management (ONT, Illumina…) -Don’t align yourself to the old leadership. You’ll be tarred with the same brush -Show no signs of duplicated effort between you and others. They are looking for area to trim down . . .





@UMCU_Intl Marcel Nelen: TruPath™ Genome is very easy to implement — and even in a notoriously complex region (SMN1/SMN2), it enabled a clear, confident answer in a challenging case — plus megabase scale phasing and clearer complex SV interpretation — one step closer to “one test fits all.” (4/11) #AGBTGM26




These comments in Nature Genetics on a GWAS signal for cerebral amyloid angiopathy at APOE are a great case study in the challenges of interpreting genetic associations even with abundant data. Worth reading for anyone interested in translating GWAS hits to drug targets👇


The whole premise of cheaper genome sequencing was that it would lead to better individualized therapeuticals. I have yet to see *any* evidence that was the case. In my experience the practice of medicine has not changed an iota over the past 26 years.



