#ASHG21 TA: Tiffany Amariuta.
Modeling tissue co-regulation to quantify tissue-specific contributions to disease heritability. [ dropping in the middle of it ]
#ASHG21 TA: TCSC applied to real traits. 25 GTEx v8 tissues. 350-550 meta tissues and singular tissues. analyze 82 GWAS summary statistics. TCSC identifies 67 tissue trait pairs with non-zero heritability at 10% FDR.
#ASHG21 TA: TCSC reduces the number of trait-associated tissues within a tissue category by 67% because it accounts for tissue co-regulation.
#ASHG21 TA: In blood traits, IBD risk, alzheimers, red blood cell count, and total blood protein are found to be associated with the total blood expression

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More from @thatdnaguy

20 Oct
#ASHG21 BMG: Bailey Martin-Giacalone.
Germline variants in cancer predisposition genes predict survival for children with rhabdomyosarcoma (RMS)
#ASHG21 BMG: RMS most common soft tissue cancer of childhood. Usually two subtypes. alveolar RMS (ARMS) ~80% have a PAX3/7-FOX01 fusion. Embryonal RMS (ERMS) have heterogeneous somatic mutation landscape.
#ASHG21 BMG: risk factors for survival include histology, primary site, fusion status, metastasis, age at diagnosis. tumor size. ERMS cases have better outcome. In fusion negative RMS with TP53 mutation have worse survival.
Read 15 tweets
20 Oct
#ASHG21 EDF: Elisa De Franco.
loss of the primate specific gene ZNF808 causes pancreatic disease.
#ASHG21 EDF: studying human development to better understand common and rare diseases. specifically interested in diabetes.
#ASHG21 EDF: Mice can offer important insights, but there are fundamental differences between humans and mice.
Read 14 tweets
20 Oct
#ASHG21 JS: Jonathan Sebat.
a phenotypic spectrum of autisim attributable to... [ too fast I missed it ]
#ASHG21 JS: combined 3 cohorts. Two WGS cohorts and the SPARK study. 11k families. 37,375 individuals. Called with GATK best practices. Imputed genotypes from SPARK combined with PLINK. Calculated polygenic scores.
#ASHG21 JS: autism enriched in de novo mutations, rare inherited variants, and increased PRS scores.
Read 11 tweets
20 Oct
#ASHG21 WL: Wenhan Lu.
quantifying the extent of pleiotropy using rare variant association data in 281k human exomes
#ASHG21 WL: have large scale rare variant association in UKBB exomes.
Preprint - medrxiv.org/content/10.110…
Explorer at - genebass.org
#ASHG21 WL: Interested in pleiotropy. Look at variant-level pleiotropy. 349k vars. 5.4k with > 1 phenotype. 152 associated with > 20 phenotypes.
Read 12 tweets
20 Oct
#ASHG21 RB: Richard Border.
Widespread evidence of systematic bias in estimates of genetic correlation due to assortative mating.
[ I think this is the preprint. Don't hold me to it. ]
biorxiv.org/content/10.110…
#ASHG21 RB: interested in characterizing what extent two traits share similarity across traits.
#ASHG21 RB: Can compute the polygenic scores for each trait and see how they compare. Or correlation of effect correlations. Many ways to look at genetic correlations.
Read 7 tweets
20 Oct
#ASHG21 MO: Meritxell Oliva.
Genetic regulation of DNA methylation across tissues reveals thousands of molecular links to complex traits.
#ASHG21 MO: GTEx looks at gene expression, regulation, and its relationship to genetic variation. The v8 set has eQTL data. 15,201 RNA-Seq samples from 838 post-mortem donors. 49 tissues.
#ASHG21 MO: A mQTLs are variants associated with DNA methylation. GWAS-QTL colocalization can help prioritize the causal genes at a GWAS locus.
Read 14 tweets

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