The fate of missense variants in solo exomes is usually to stay as VUS… not for Dijon team! (Lecoquirre @jamiebdm and Duffourd et al) Public data in denovo-db used in a smart way lead to many neurodev patients obtaining diagnosis. @GIMJournal https://t.co/7iLyOyDTnc
Careful benchmarking of ~70 different methods for SV detection from human genomes:
https://t.co/a66nPc9qs8
Looks to be an impressively comprehensive and valuable reference to guide future SV discovery efforts.
Thank you to the authors for compiling this study!!
we have used GiaB SV truthset in developing smoove and duphold, which, together, reduce the number of false positive SV calls from lumpy 3-fold with ~ 1% loss in recall. this would not be possible without a resource like this.
After years... and years... Our GenPipes paper is finally out! It describes 12 pipelines for various genomics applications. Please take a look and let us know what you think! @C3Genomics https://t.co/1RhQrKBCeL
just found out about this sweet, sweet, precious, downloadable data: https://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)
We've received a few requests for a BED file of our constrained coding regions. @jim_havrilla has put together a github repo with links to an igv.js browser, bed file etc.
Repo: https://t.co/Pbz46vCyek
Manuscript: https://t.co/xALHlp983j