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Title Working Group(s) Name and Date of Professional Meeting POST DATE
Estimating the ages of rare variants using long ­range identity by ­descent (IBD) ASHG Poster number 2405F
Whole Genome Sequence Association Analysis of Body Mass Index in 45,159 TOPMed Participants Anthropometry - Adiposity (includes Physical Activity) ASHG (October 15-19, 2019)
Low frequency and rare variants of RBFOX1 are associated with blood pressure Blood Pressure ASHG 2017 annual meeting
Targeted genome sequencing identifies multiple rare variants in Caveolin-1 (CAV1) associated with obstructive sleep apnea trait Sleep Traits ASHG 2019
Low frequency and rare variants in multiple genes are associated with sleep related traits using whole genome sequencing data Sleep Traits ASHG 2017 Annual Meetng
Use of Polygenic Risk Scores to Improve GFR Estimating Equation in CRIC and MESA Kidney Function ASHG Conference (Nov 1-5 2023)
Whole genome sequencing association analysis of red blood cell traits in a multi-ethnic population from the Trans-Omics for Precision Medicine (TOPMed) Project Hematology and Hemostasis American Society of Human Genetics 2017 Annual Meeting (Oct, 2017)
TOPMed metabolomics association analysis of cardiovascular disease in participants with type 2 diabetes Diabetes CHARGE Meeting (May 10th and 11th, 2023)
Whole-genome Sequencing Analysis of Body Mass Index in the Trans-Omics for Precision Medicine (TOPMed) Program Identifies Novel African Ancestry-specific Risk Allele Anthropometry - Adiposity (includes Physical Activity) ASHG (November 1, 2023)
Analyzing the full spectrum of genomic variation with Lp(a) cholesterol: novel insights from deep, whole genome sequence data in 5,192 Estonians and African Americans Lipids Harvard Program in Quantitative Genomics (PQG) meeting (November 2016)
Multi-ethnic whole genome sequence analysis of Lp(a) and phenome-wide scan Lipids Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) meeting (Sep 2017)
Analyzing the full spectrum of genomic variation with Lp(a) cholesterol: novel insights from deep, whole genome sequence data in 5,192 Estonians and African Americans Lipids Harvard Program in Quantitative Genomics (PQG) meeting (November 2016)
Somatic mutations in chronic lung disease are associated with reduced lung function Lung ASHG 10/26/2022
Catalog and Genetic Architecture of Circulating Metabolites from Trans-Omics for Precision Medicine (TOPMed) Program Metabolomics and Proteomics ASHG Nov 2023
Metabolomic Associations with Pulmonary Function: Findings from the TOPMed Program Metabolomics and Proteomics ATS 2020 (May 15, 2020)
Multi-Ethnic Whole-Genome Sequencing Analysis of Human Metabolome Identifies 93 Novel Genetic Loci Metabolomics and Proteomics ASHG (Oct 27, 2020)
Discovering rare variants associated with substance use in 65,000 deep whole genome sequences in the Trans-Omics for Precision Medicine (TOPMed) Program Smoking Behavior Genetics Association (Boston, June 20-23, 2018)
Systematic integration of multi-omics data from TOPMed MESA for the study of coronary artery disease (CAD) and subclinical atherosclerosis MESA Omics ASHG (November 1-5, 2023)
Systematic Integration of Multi-omics Data for Coronary Artery Disease and Subclinical Atherosclerosis Atherosclerosis - Clinical and Subclinical ASHG Conference (Oct. 24-28, 2022) and CHARGE Seattle Conference (Oct. 13-14, 2022)
Genomic Signatures of Aging for Frailty in the NHLBI TOPMed Program Longevity and Healthy Aging ASHG Annual Meeting, November 6, 2024
Mitochondrial DNA Copy Number Variation in Asthma Risk and Severity Mitochondrial DNA CHARGE Boston (May 10, 2023)
Ancestry-specific markers for asthma exacerbation among African American individuals in the Trans-Omics for Precision Medicine (TOPMed) Program’s Asthma Translational Genomics Collaborative (ATGC) Asthma ATS 2022 (May 13-18, 2022)
A Genotype Validated Bimodal Method for the Large-Scale Identification and Phenotyping of Persons with Sickle Cell Disease Using Electronic Health Record Data Sickle Cell Disease ASH Annual Meeting 2023
Whole Genome Sequence Association Analysis of Fasting Glucose in the Trans-Omics for Precision Medicine (TOPMed) program Diabetes Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) meeting, Boston (USA), 27-28 Sept 2017.
Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease Lipids ASHG 2019 (October 15-19, 2019)
Novel structural variants originating in F8 non-coding regions explain previously unresolved cases of severe hemophilia A Hematology and Hemostasis ASHG
Genomic characterization of F8 and F9 copy number variants in the My Life, Our Future TOPMed hemophilia cohort Hematology and Hemostasis ASHG Annual Meeting October 17th
The genetically regulated transcriptome better predicts plasma protein levels than the observed transcriptome and reveals mechanisms underlying autoimmune diseases MESA Omics ASHG November 1-5, 2023
Performing TWAS on proteomic data to understand cis and trans gene regulatory mechanisms underlying complex traits MESA Omics ASHG October 25-29, 2022
Multiadaptive shrinkage improves cross-population transcriptome prediction for transcriptome-wide association studies in underrepresented populations. MESA Omics ASHG October 25-29, 2022
Identification of gene-diet interactions impacting glycemic biomarkers in the multi-ethnic TOPMed cohorts Diabetes American Society for Nutrition Conference (June 7-10, 2021)
Whole Genome Sequence Association Analysis Of Type 2 Diabetes And Glycemic Traits In Trans-omics For Precision Medicine (TOPMed) Diabetes International Genetic Epidemiology Society (September 9-11, 2017)
TOPMed Whole Genome Sequence Association Analysis Of Type 2 Diabetes Diabetes American Society of Human Genetics (October 17-21)
TOPMed Whole Genome Sequence Association Analysis Of Type 2 Diabetes Diabetes American Society of Human Genetics (October 17-21)
Gene Expression and Splicing QTL Analysis of Blood Cells in African American Participants from the Jackson Heart Study Multi-Omics 2023 ASHG Annual Meeting, November 1-5, 2023
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)
A compendium of recurrent somatic variation in 46,080 TOPMed whole genomes Hematology and Hemostasis ASHG 2020
Inherited causes and clinical consequences of clonal hematopoiesis from 100,002 whole genomes Hematology and Hemostasis ASHG 2019
Whole genome sequence analysis of long non-coding RNAs for plasma lipid traits Lipids CHARGE Seattle Conference (Oct 12-14, 2022)
Whole genome sequence analysis of long non-coding RNAs for plasma lipid traits Lipids ASHG (October 27, 2022)
AI-STAAR: An ancestry-informed association analysis framework for large-scale multi-ancestry whole genome sequencing studies Kidney Function ASHG Annual Meeting (November 5-9, 2024)
Integrating Whole Genome Sequence Analysis and eQTL Data from the TOPMed Program Improves Understanding of Type 2 Diabetes Risk Loci in Diverse Populations Diabetes American Diabetes Association's 83rd Scientific Sessions (June 23-26, 2023)
Catalog and Genetic Architecture of Circulating Metabolites from Trans-Omics for Precision Medicine (TOPMed) Program Metabolomics and Proteomics ASHG Meeting (November 1-5, 2023)
Upregulation in the heme biosynthesis pathway increases obstructive sleep apnea severity: a mendelian randomization study Hematology and Hemostasis, Multi-Omics, Sleep Traits Joint meeting of the American Academy of Sleep Medicine and the Sleep Research Society (June10,2021)
Genetic variants for obstructive sleep apnea identified after modeling interactions with daytime sleepiness Sleep Traits SLEEP (June 3, 2023)
Whole genome sequence analyses for Excessive Daytime Sleepiness in the NHLBI TOPMed Program Sleep Traits SLEEP (June 3, 2023)
Near-Optimal Trans-ethnic Association and Fine Mapping of Smoking Associated Genes Integrating GWAS and TOPMed sequence Data of 1.3 million individuals Smoking ASHG October 2019
Trans-ethnic GWAS meta-analysis of tobacco and alcohol use Smoking ASHG October 2019
cellSTAAR: Incorporating single-cell-sequencing-based functional data to boost power in rare variant association testing of non-coding regions Lipids ASHG 2023
Integration of Multi-Omics Data & eQTL Summary Statistics with omicsSTAAR Boosts Power in Rare Variant Association Tests of Non-Coding Regions Multi-Omics ASHG 2024 (November 7, 2024)
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