Zook, J.M., Hansen, N.F., Olson, N.D. et al. A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol (2020). https://t.co/WGIn6YvdvX #GIAB#bioinformatics#benchmark
Even More Personalized Medicines: An analysis by the @permedcoalition finds that about a quarter of new drugs approved in 2019 by @Surgeon_General were personalized medicines https://t.co/3W85JFBco2
Musters, A., Tas, S.W. Room for improvement in clinical trials for rare diseases. Nat Rev Rheumatol (2020). https://t.co/AMOxvQ0eaq #clinicaltrials#Rheumatology
Watch our Chief Operating Officer @SergeiIakhnin commenting his paper that was published yesterday in @nresearchnews about his work on Butler, a tool for large-scale analysis of genomic data, in collaboration with @embl
A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data https://t.co/XbJGXmBUsR #RareDisease#CNV#WES