Our collaboration with Sam Schilit, Cynthia Morton, and the rest of the DGAP team on a case of congenital hearing loss with a de novo balanced translocation, dubbed DGAP242, was published this week in European Journal of Human Genetics. The article can be viewed here. Congrats to...
brent_pjust found out about this sweet, sweet, precious, downloadable data: t.co/7yv3LH6gMd
WGS, BS-Seq, RNA-Seq, targetted RNA from recent illumina platforms for 10 Samples and WGS for 100+!
from Personal Genome Project UK (@PGorg)