Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
One of the justifiable criticisms of human genetic studies is the underrepresentation of
participants from diverse populations. Lack of inclusion must be addressed at-scale to …
participants from diverse populations. Lack of inclusion must be addressed at-scale to …
Cross-ancestry investigation of venous thromboembolism genomic predictors
Background: Venous thromboembolism (VTE) is a life-threatening vascular event with
environmental and genetic determinants. Recent VTE genome-wide association studies …
environmental and genetic determinants. Recent VTE genome-wide association studies …
[HTML][HTML] Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program
Summary Whole-genome sequencing (WGS), a powerful tool for detecting novel coding and
non-coding disease-causing variants, has largely been applied to clinical diagnosis of …
non-coding disease-causing variants, has largely been applied to clinical diagnosis of …
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes
JS Weinstock, CA Laurie, JG Broome, KD Taylor… - Science …, 2023 - science.org
Nononcogenic somatic mutations are thought to be uncommon and inconsequential. To test
this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision …
this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision …
The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare
KB Hanscombe, E Persyn, M Traylor, KP Glanville… - Genome medicine, 2021 - Springer
Background Cardiorespiratory fitness (CRF) and physical activity (PA) are well-established
predictors of morbidity and all-cause mortality. However, CRF is not routinely measured and …
predictors of morbidity and all-cause mortality. However, CRF is not routinely measured and …
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease
Whether or not populations diverge with respect to the genetic contribution to risk of specific
complex diseases is relevant to understanding the evolution of susceptibility and origins of …
complex diseases is relevant to understanding the evolution of susceptibility and origins of …
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program
Many common and rare variants associated with hematologic traits have been discovered
through imputation on large-scale reference panels. However, the majority of genome-wide …
through imputation on large-scale reference panels. However, the majority of genome-wide …
Approach to clinical trials for the prevention of pulmonary fibrosis
JS Kim, SB Montesi, A Adegunsoye… - Annals of the …, 2023 - atsjournals.org
Page 1 of 34 supported by R01-HL-152075 from NHLBI. JAK is supported by R01HL145372
and R01HL153246 from NHLBI, W81XWH1910415 from the Department of Defense, and …
and R01HL153246 from NHLBI, W81XWH1910415 from the Department of Defense, and …
Common host variation drives malaria parasite fitness in healthy human red cells
The replication of Plasmodium falciparum parasites within red blood cells (RBCs) causes
severe disease in humans, especially in Africa. Deleterious alleles like hemoglobin S are …
severe disease in humans, especially in Africa. Deleterious alleles like hemoglobin S are …
From GWAS variant to function: A study of∼ 148,000 variants for blood cell traits
Genome-wide association studies (GWASs) have identified hundreds of thousands of
genetic variants associated with complex diseases and traits. However, most variants are …
genetic variants associated with complex diseases and traits. However, most variants are …