UW-CMG retweeted
Another new #epilepsy NDD #RareDisease gene 👇👇
Great international @MyGene2 @GeneMatcher collaboration w/ @ingridscheffer @gaetan_lesca @GeneDx @UWCMG and many not on Twitter incl 1st author Yoeri Sleyp, co-sr Hilde Peeters. 🧬🧠🧬
New insights into the link between genetic variants in KLH20 and a neurodevelopmental syndrome characterized by ID, seizures, ASD and hyperactivity. #ubiquitin #neurodevelopment bit.ly/3TBtu6t
UW-CMG retweeted
Deletion of CTCF motifs can lead to a Mendelian disease, acheiropodia (limb truncation). A project we started 10 years ago and spearheaded by the outstanding @AkiUshiki along with numerous other amazing collaborators too long to list here. nature.com/articles/s41467-0…
UW-CMG retweeted
New! Van De Weghe et al. identify bi-allelic TMEM218 variants in multiple ciliopathies
bit.ly/3lWxCxH
UW-CMG retweeted
Preprint for our newest #RareDisease gene discovery w/@mikebamshad @UWCMG @LabTalbot @debnick. This has been the works for almost SIX years (glad we shared our initial cases on @MyGene2 years ago!) 1/10
Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis biorxiv.org/cgi/content/shor… #bioRxiv
UW-CMG retweeted
Our latest collaborative #genetics paper online! CEP85L variants & posterior lissencephaly. Clustered pathogenic variants, striking MRI findings, intractable #epilepsy, variable cognitive outcomes, pericentriolar protein localization. cell.com/neuron/fulltext/S08…
UW-CMG retweeted
Advances in #genetic research can help end the problem of a "diagnostic odyssey": n.pr/35zeTjX Locally, @UWCMG & @MyGene2 are working to discover genetic disorders and advance #PrecisionMedicine.
UW-CMG retweeted
Do you think we're approaching the end Mendelian gene discovery? In this month's issue, @bamshadmike, @jxchong & @debnick60 say think again; the end is nowhere in sight bit.ly/2lFDG33
UW-CMG retweeted
Accepting applications for our 7th annual rare disease/Mendelian analysis workshop this August! Learn how to QC, annotate, and analyze ES/WGS data to discover genes and diagnose #raredisease
bit.ly/uwcmgworkshop @aaronquinlan @brent_p
UW-CMG retweeted
Great for those interested in a high level view of variant interpretation. Once you gotten excited from the Broad course, follow up with our Mendelian analysis course in August and learn how to get your hands dirty with the raw data! :) bit.ly/uwcmgworkshop
Following a successful first run, our Broad CMG/ClinGen course on "Interpreting Genomes for Rare Disease: Variant and Gene Interpretation" will be held again on May 15-16, Cambridge, MA @broadinstitute Early bird registration March 31 - learn more here: bit.ly/2HyyZSD
UW-CMG retweeted
It’s that time of year again! @UWCMG running our annual Mendelian data analysis workshop. Learn how to go from VCF->gene discovery/diagnosis! apply here: bit.ly/uwcmgworkshop @aaronquinlan @brent_p
UW-CMG retweeted
Families & patients with #RareDiseases, as well as clinicians & researchers, can use mygene2.org @UWMedicine Center for Mendelian Genomics to connect with each other & help discover causes & diagnoses for rare genetic conditions #RareDiseaseDay @MyGene2 @uwgenome
UW-CMG retweeted
NIH-supported Centers for Mendelian Genomics (CMGs) leverage past achievements for future success @poseypod @zcoban @adahamosh @AnneOtation @HeidiRehm @dgmacarthur @jxchong @jansonwhite goo.gl/7AG31v
Amazing work from multiple UW-CMG collaborators including 1 of @hcmefford’s amazing research scientists Amy LaCroix as 1st author. WES, WGS couldn’t find it. Sanger barely worked. Solution=restriction digests & Southern blot?!?!
Work from some of our UW-CMG collaborators explores the effects of variants in NOTCH1 on congenital heart defects
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