Discover and read the best of Twitter Threads about #clinvar
Most recents (3)
Big leap for the @OpenTargets platform. Gene burden from 450k+ @uk_biobank exomes from @AstraZeneca and @Regeneron, ClinVar structural variants, NLP classification of clinical trials stop reasons and drug label indications,etc. Systematically filling the gaps one-by-one 🧵
On our mission to identify potential causal targets from genetics 🧬, the strongly-powered @uk_biobank burden tests provide us an opportunity to close the gap between rare disease variation, and common variation from GWAS studies - as post-processed by the Genetics Portal
The 2 complementary analyses expand our view on the mechanistic effect of LoF variants, quantitative traits and genetics in more diverse populations. Big thanks to the authors for data sharing and @GWASCatalog for archiving and harmonising the information
Our association study in 653K individuals linking protein-coding genetic variants from @uk_biobank exomes & imputed genotypes in @FinnGen_FI to 744 disease endpoints. Brilliant work by @ben_b_sun 1/10 @GeneticsSociety #ASHG21
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2/ GWAS have linked 1000s of genetic variants to disease, but datasets to resolve association signals to coding genes & higher impact rare/low frequency alleles are emerging only now, e.g. through sequencing @uk_biobank or leveraging bottlenecked populations like @FinnGen_FI 
3/ We harmonized disease endpoints captured in both biobanks & conducted coding-wide association (CWAS) meta-analyses. This identified 975 replicating signals, most from missense alleles. 1/3 were novel, 145 had MAF<2%. This included "benign" variants in monogenic disease genes.
FDA Commissioner, Personalized Medicine Proponent @ScottGottliebMD Resigns genomeweb.com/molecular-diag…
The agency under @SGottliebFDA had a productive 2018 in terms of #personalizedmedicine approvals, diagnostics guidelines, recognition of the 1st public variant database #ClinVar, and efforts to incorporate real-world evidence in reviews genomeweb.com/molecular-diag…
@SGottliebFDA's FDA even took on the contentious issue of regulation of lab-developed tests and provided input on a draft bill #VALIDAct that would bring all tests under one regulatory pathway, the centerpiece of which would be a precertification program genomeweb.com/molecular-diag…
