Hi everyone,
Our paper about boosting the power of GWAS using polygenic scores (PGS) is just out in @NatureGenet. Please check it out here: https://t.co/SkTKmmmsZV
Great paper from the Epi25 collaborative on the rare variant associations of different types of epilepsy based on WES analysis of ~54k individuals. This paper is packed with insightful findings. I'll highlight a few 🧵
https://t.co/yOcuwOAqP8
New preprint! We studied how rare protein-coding variants impact cognitive function & linked diseases in @uk_biobank. We identified 8 large-effect cog fx genes, dosage-sensitivity for KDM5B, additivity of rare variant and polygenic risk & more (1/12) https://t.co/jfMolNuHf7
Do medically-actionable genes have effects on psychiatric disorders? Targeted deep sequencing in 15K individuals from @eMERGENetwork_ Led by @AnnejaneF#pleiotropy#PheWAS@TheACMG@GeneticCouns https://t.co/JWyeDLt5qO
@MireilleKamariz@BioEngUCLA@UCLA Congratulations Mireille!!!! So very well deserved!! excited to see all the great things that’ll be coming from your lab🤩
I predict 2022 as the Year of the National Biobanks. After many years of investment, they are now generating data at a population-scale. MVP. FinnGen.All of Us. Estonia. UKGH. UKBB. Retweet w/ other examples @AllofUsCEO @FinnGen_FI@dvh13@zakkohane@atulbutte@dalygene
Today we are thrilled to announce the #COVID19 HGI manuscript is published @Nature https://t.co/eNs280nXmq
In this study, we report that the human genome significantly contributes to an individual’s response to SARS-CoV-2 infection.
1/
Fantastic to have this paper out! Julia Goodrich and @miriam_udler did a seriously heroic amount of work to explore a critical question: if you carry a rare variant previously reported as causing a "monogenic" disease, how likely are you to actually have the disease?
I’m excited to share DeepNull, led by @FHormozdiari from the Genomics team in @GoogleHealth, which improves statistical power of GWAS by better modeling non-linear interactions between covariates, which improves detection of genetic associations 1/6
A large-scale genomics resource of East Asian ancestry made available by Taiwan Biobank. A joint project with @ChiayenChen @DrYenFengLin @getian107@AnnejaneF@dalygene and many others!
On behalf of the Bipolar Exome (BipEx) project, I'm excited to present our analyses of exome sequencing data from 13,933 bipolar disorder cases and 14,422 controls which highlights AKAP11 as a shared risk gene with schizophrenia: https://t.co/fibO7oeoL1 (1/9)
Exciting day for COVID-19 host genetics! 🧬🎊
1) Flagship @covid19_hgi paper. Largest GWAS for COVID-19. 50000 cases. 15 loci
https://t.co/c0oWf7QJcQ
2) The clinical impact of the strongest genetic variant for COVID-19 and its age-dependent effect.
https://t.co/pMsP2FcC2e
This paper was a longtime coming. In no particular order, some of the interesting things to learn from the sequencing and analysis of 53,831 human genomes. 1/n
https://t.co/N5xBtfOEbw
PDF: https://t.co/DRUQlztmGt