#ASHG21 KG: Kiran Girdhar.
Acetylated chromatin domains link chromosomal organization to cell and circuit level dysfunction in schizophrenia and bipolar disorder.
#ASHG21 KG: Generated cell specific histone modified regions from controls postmortem brain samples. Enrichment of neuron specific histone peaks.
#ASHG21 KG: hyper acetylated peaks are enriched for schizophrenia and bipolar risk loci. Hypothesized that coordinated structure of histone peaks may be important in disease.
#ASHG21 KG: see cis-regulatory domains (CRDs) span width of 10kb - 10Mb. The CRDs are disrupted as a structural unit, not just an individual isolated peak.
#ASHG21 KG: trans interactions between CRDs show interactions of hyper- and hypoacetylated loci. Highest magnitude coefficient of heritability of schizophrenia was with fetal specific CRDs
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#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.
#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.
#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.
#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.