Publications
Filters: Author is Vasan, Ramachandran S [Clear All Filters]
Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis. Nature. 2023 ;616(7958):755-763.
. Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology. Nat Genet. 2017 ;49(11):1560-1563.
. Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data. Hum Mol Genet. 2022 ;31(22):3873-3885.
. Association analysis of mitochondrial DNA heteroplasmic variants: methods and application. medRxiv. 2024 ;.
. Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application. Mitochondrion. 2024 ;79:101954.
. Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk. J Am Heart Assoc. 2023 ;12(20):e029090.
. Association of mitochondrial DNA copy number with cardiometabolic diseases. Cell Genom. 2021 ;1(1).
. Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. JAMA Cardiol. 2023 ;8(3):258-267.
. Association of the IGF1 gene with fasting insulin levels. Eur J Hum Genet. 2016 ;24(9):1337-43.
. Author Correction: Clonal haematopoiesis and risk of chronic liver disease. Nature. 2023 ;619(7970):E47.
. Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2021 ;591(7851):E27.
. BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion. HGG Adv. 2021 ;2(3).
. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 ;12(1):2182.
. Clonal haematopoiesis and risk of chronic liver disease. Nature. 2023 ;616(7958):747-754.
. The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies. Am J Epidemiol. 2019 ;188(6):991-1012.
. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 ;12(1):3505.
. Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure. PLoS Genet. 2016 ;12(5):e1006034.
. Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale. Nat Genet. 2020 ;52(9):969-983.
. Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies. Am J Hum Genet. 2019 ;104(2):260-274.
. An exome array study of the plasma metabolome. Nat Commun. 2016 ;7:12360.
. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls. Nature. 2019 ;570(7759):71-76.
. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat Methods. 2022 ;19(12):1599-1611.
. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants. bioRxiv. 2023 ;.
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