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Title Working Group(s) Name and Date of Professional Meeting POST DATE
Genome Wide Association Analysis of Iron Overload in the Trans-Omics for Precision Medicine (TOPMed) sickle cell disease cohorts Sickle Cell Disease 62nd Annual Meeting of the American Society of Hematology (ASH) (Saturday, December 5 to Tuesday, December 8, 2020)
An HLA association study of total serum IgE levels using whole-genome sequence data from TOPMed Asthma, Lung ASHG (Oct 2020)
GDF10, A Novel BMD Locus Identified by Whole Genome Sequencing Showed Reduced Vertebral Bone Mass & Mineralization in CRISPR KO Zebrafish: The NHLBI Trans-Omics for Precision Medicine (TOPMED) Study Bone Mineralization ASBMR Sep 2020
Novel osteoporosis loci identified by whole genome sequencing and CRISPR editing screening in zebrafish: The NHLBI Trans-Omics for Precision Medicine (TOPMED) Study Bone Mineralization American Society of Human Genetics (October 2020)
Powerful and resource-efficient rare variant meta-analysis for large-scale whole genome sequencing studies using summary statistics and functional annotations, with application to TOPMed lipid data Lipids ASHG 2020 Annual Meeting (October 27-31, 2020)
Mapping of mQTLs in TOPMed/MESA and implications in lung disease risk and GxE interactions Lung ASHG (October 27-31, 2020)
Phenome-wide and molecular consequences of inbreeding Anthropometry - Adiposity (includes Physical Activity), Diabetes, Lipids, Multi-Omics, PFT Lung Population Cohorts, Population Genetics American Society of Human Genetics (Oct 27-31, 2020)
A framework for detecting non-coding rare variant associations in large whole genome sequencing studies at scale, with application to 30,138 TOPMed participants for lipid traits Lipids ASHG Conference (October 27-31)
A mixed model approach to testing multiple correlated traits in large samples: An application to the Trans-Omics for Precision Medicine (TOPMed) program hematology phenotypes. Hematology and Hemostasis ASHG Conference October 27, 2020
eSCAN: Scan regulatory regions for aggregate association testing using whole genome sequencing data Hematology and Hemostasis American Society of Human Genetics, October 27-31, 2020
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