Publications

Submitting Author Title Journal Name Publication Date PMID Associated proposal ID(s)
Gutierrez-Arcelus, Maria Allele-specific expression changes dynamically during T cell activation in HLA and other autoimmune loci Nature Genetics 2020 32066938
O'Connor, Tim De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population Proceedings of the National Academy of Sciences of the United States of America 2020 31964835
Pezant, Nathan Genome-Wide Association Study of Ocular Sarcoidosis Confirms HLA Associations and Implicates Barrier Function and Autoimmunity in African Americans Ocular Immunology and Inflammation 2020 32141793
Raffield, Laura Coagulation factor VIII: Relationship to Cardiovascular Disease Risk and Whole Genome Sequence and Epigenome-Wide Analysis in African Americans Journal of Thrombosis and Haemostasis 2020 31985870
Auer, Paul Allelic heterogeneity at the CRP locus identified by whole-genome sequencing in multi-ancestry cohorts American Journal of Human Genetics 2019 31883642
Cho, Michael A flexible and nearly optimal sequential testing approach to randomized testing: QUICK-STOP. Genetic Epidemiology 2019 31713269
Geng, Xin An Exome-Wide Sequencing Study of the GOLDN Cohort Reveals Novel Associations of Coding Variants and Fasting Plasma Lipids. Frontiers in Genetics 2019 30863429
Gogarten, Stephanie Genetic association testing using the GENESIS R/Bioconductor package Bioinformatics 2019 31329242
Khera, Amit V. Whole-Genome Sequencing to Characterize Monogenic and Polygenic Contributions in Patients Hospitalized With Early-Onset Myocardial Infarction. Circulation 2019 30586733
Li, Yun Use of >100,000 Deep Coverage Whole Genome Sequences from the NHLBI Trans-Omics for Precision Medicine (TOPMed) Project Results in Improved Imputation Quality and Detection of Rare Variant Associations in Admixed African and Hispanic/Latino Populations PLOS Genetics 2019 31869403
Mak, Angel CY Identification of CFTR Variants in Hispanic Patients with Cystic Fibrosis from the Dominican Republic and Puerto Rico Pediatric Pulmonology 2019 31665830
Sarnowski, Chloé Impact of rare and common genetic variants on type 2 diabetes diagnosis by hemoglobin A1c in multi-ancestry populations from the Trans-Omics for Precision Medicine (TOPMed) Program American Journal of Human Genetics 2019 31564435
Sofer, Tamar A Fully-Adjusted Two-Stage Procedure for Rank Normalization in Genetic Association Studies Genetic Epidemiology 2019 30653739
Szpiech, Zachary Ancestry-dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity American Journal of Human Genetics 2019 31543216
Weiss, Scott Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children with Airway Hyperresponsive Asthma Chest 2019 31557467
Zhu, Xiaofeng Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. American Journal of Human Genetics 2019 31668705
Zhu, Xiaofeng Leveraging linkage evidence to identify low frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data Human Genetics 2019 30671673
Auer, Paul Whole genome sequences association with E-selectin levels reveals Loss-of-function variant in African Americans Human Molecular Genetics 2018 30307499
Chen, Han Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies American Journal of Human Genetics 2018 30639324
Ellinor, Patrick Association between titin loss-of-function variants and early-onset atrial fibrillation. JAMA: The Journal of the American Medical Association 2018 30535219
Geng, Xin An exome-wide sequencing study of lipid response to high-fat meal and fenofibrate in Caucasians from the GOLDN cohort. Journal of Lipid Research 2018 29463568
Hu, Yao A common TCN1 loss of function variant is associated with lower vitamin B12 level in African Americans Blood 2018 29764838
Mitchell, Braxton An APOO pseudogene on chromosome 5q regulates LDL-C levels Circulation 2018 29593015
Natarajan, Pradeep Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries Nature Communications 2018 29973585
Natarajan, Pradeep Deep-coverage whole genome sequences and blood lipids among 16,324 individuals Nature Communications 2018 30140000
Oh, Sam Whole genome sequencing of pharmacogenetic drug response in racially and ethnically diverse children with asthma American Journal of Respiratory and Critical Care Medicine 2018 29509491
Reiner, Alex Common α-globin and β-globin variants in African Americans and their interaction on red cell and other clinical phenotypes PLOS Genetics 2018 29590102
Silverman, Edwin Whole Genome Sequencing in Severe Chronic Obstructive Pulmonary Disease American Journal of Respiratory and Critical Care Medicine 2018 29949718
Wheeler, Marsha Genomic characterization of the RH locus detects common, complex and novel structural variation in two multi-ethnic cohorts Nature Genetics in Medicine 2018 29955105
Brody, Jennifer Analysis Commons: A Team Approach to Discovery in a Big-Data Environment for Genetic Epidemiology Nature Genetics 2017 29074945
Raffield, Laura D-dimer in African Americans: Whole Genome Sequence Analysis and Relationship to CVD Risk in the Jackson Heart Study Arteriosclerosis, Thrombosis, and Vascular Biology 2017 28912365
Sarnowski, Chloe Whole genome sequence analyses of brain imaging measures in the Framingham Study Neurology 2017 29282330
CSV