Discover and read the best of Twitter Threads about #polygenic
Most recents (4)
Great to see my #review on #pharmacogenomics in @NatureRevGenet. rdcu.be/c4iur
@BritPharmSoc @LivUni @pandtuol @CDSS_Liverpool @pgrnhub @pharmgkb @nwgmsa @LivUniISMIB
Key messages:
@BritPharmSoc @LivUni @pandtuol @CDSS_Liverpool @pgrnhub @pharmgkb @nwgmsa @LivUniISMIB
Key messages:
A. Wider definition of #pharmacogenomics
B. Pharmacogenomic #variation is common, we are exposed to many #drugs which require pharmacogenomic #guidance
C. There is increasing #evidence of #clinical #utility of #PGx
B. Pharmacogenomic #variation is common, we are exposed to many #drugs which require pharmacogenomic #guidance
C. There is increasing #evidence of #clinical #utility of #PGx
D. We need more studies on #diversity in #PGx
E. The time is right for #implementation of #PGx #personalised #prescribing
bps.ac.uk/getmedia/b43a3…
E. The time is right for #implementation of #PGx #personalised #prescribing
bps.ac.uk/getmedia/b43a3…
Excited to share our new #method, scDRS, for associating **individual cells** to disease by integrating #scRNA-seq + #GWAS, providing #polygenic disease risk enrichment beyond tissues or cell types.
biorxiv.org/content/10.110…
biorxiv.org/content/10.110…
scDRS assesses excess expression of a set of putative disease genes constructed from GWAS, using an appropriately matched empirical null distribution to compute p-values. (2/n) 
We applied scDRS to GWAS from 74 diseases and complex traits (average N=341K) in conjunction with 16 scRNA-seq data sets spanning 1.3 million cells from 31 tissues and organs, including the amazing Tabula Muris Senis mouse atlas and Tabula Sapiens human atlas @czbiohub. (3/n)
OK, looks like Democracy is safe for now, and the push for reform is making headway. There's a long road ahead, but I'll take a brief timeout to report from @NYASciences's #Phenotypic2020 virtual conference.
First keynote was @OlgaTroyanskaya, presenting a range of tools for understanding #NonCoding genomic variants: DeepSEA, ExPecto, Fenrir...
Emphasizes that #ComplexDisease relies on networks and complex changes like #Aging, so we have to stop looking for 1->1 causal maps. Agree!
Emphasizes that #ComplexDisease relies on networks and complex changes like #Aging, so we have to stop looking for 1->1 causal maps. Agree!
Andrea Califano from @columbiacancer using combination of #HTS and #SingleCell Plate-Seq to look for cancer master regulators. VIPER identifies proteins whose regulatory effect impacts genes that distinguish cell states. Now running phase 1 trial!
@my_helix @uk_biobank @my_helix took a look at 1,317 @uk_biobank phenotypes w/ 50,000 exomes released last week. Going beyond #GWAS, used gene-based collapsing analysis. Thanks @bmneale Pheasant pipeline for clean phenotypes, @hailgenetics for the tooling.
@my_helix @uk_biobank @bmneale @hailgenetics Found some stuff that we expected, #LDLR for #cholesterol, #MC1R for red hair; but counts too small for other known conditions like HBOC/#BRCA2 @ATorkmani @RobertCGreen @atulbutte @gabecasis
@my_helix @uk_biobank @bmneale @hailgenetics @atorkmani @RobertCGreen @atulbutte @gabecasis Some interesting findings: #GP1BB associated with mean platelet volume. #GP1BB variants have been implicated in bleeding and platelet disorders.
