Common and rare variant associations with clonal haematopoiesis phenotypes

Discovering the drivers of clonal hematopoiesis

(2022) Oriol Pich et al.   Nature Communications

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

(2021) Daniel Taliun et al.   NATURE

Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

(2021) Jack A. Kosmicki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease

(2021) Ahmed A. Z. Dawoud et al.   LEUKEMIA

Computationally efficient whole-genome regression for quantitative and binary traits

(2021) Joelle Mbatchou et al.   NATURE GENETICS

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

(2021) Urmo Võsa et al.   NATURE GENETICS

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

(2021) Joseph D. Szustakowski et al.   NATURE GENETICS

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

(2021) Seyedeh M. Zekavat et al.   NATURE MEDICINE

Sequencing of 640,000 exomes identifies GPR75 variants associated with protection from obesity

(2021) Parsa Akbari et al.   SCIENCE

Dnmt3a-mutated clonal hematopoiesis promotes osteoporosis

(2021) Peter Geon Kim et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Exome sequencing and analysis of 454,787 UK Biobank participants

(2021) Joshua D. Backman et al.   NATURE

Polygenic basis and biomedical consequences of telomere length variation

(2021) Veryan Codd et al.   NATURE GENETICS

Distinction of lymphoid and myeloid clonal hematopoiesis

(2021) Abhishek Niroula et al.   NATURE MEDICINE

Clonal hematopoiesis is associated with risk of severe Covid-19

(2021) Kelly L. Bolton et al.   Nature Communications

PARP1 V762A polymorphism affects the prognosis of myelodysplastic syndromes

(2020) Nanami Gotoh et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Divergent Effects of Dnmt3a and Tet2 Mutations on Hematopoietic Progenitor Cell Fitness

(2020) Elizabeth L. Ostrander et al.   Stem Cell Reports

Synthetic lethal targeting of TET2-mutant hematopoietic stem and progenitor cells (HSPCs) with TOP1-targeted drugs and PARP1 inhibitors

(2020) Chang-Bin Jing et al.   LEUKEMIA

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

(2020) Alexander G. Bick et al.   NATURE

Genetic IL-6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal Hematopoiesis

(2019) Alexander G. Bick et al.   CIRCULATION

Genetic predisposition to mosaic Y chromosome loss in blood

(2019) Deborah J. Thompson et al.   NATURE

DNA methyltransferase inhibitors induce a BRCAness phenotype that sensitizes NSCLC to PARP inhibitor and ionizing radiation

(2019) Rachel Abbotts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clonal hematopoiesis in human aging and disease

(2019) Siddhartha Jaiswal et al.   SCIENCE

Making the Most of Clumping and Thresholding for Polygenic Scores

(2019) Florian Privé et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The poly (ADP ribose) polymerase inhibitor niraparib: Management of toxicities

(2018) Kathleen N. Moore et al.   GYNECOLOGIC ONCOLOGY

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

(2018) Po-Ru Loh et al.   NATURE

The multifaceted roles of PARP1 in DNA repair and chromatin remodelling

(2017) Arnab Ray Chaudhuri et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease

(2017) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Functional mapping and annotation of genetic associations with FUMA

(2017) Kyoko Watanabe et al.   Nature Communications

FINEMAP: efficient variable selection using summary data from genome-wide association studies

(2016) Christian Benner et al.   BIOINFORMATICS

Genetic Ancestry and Natural Selection Drive Population Differences in Immune Responses to Pathogens

(2016) Yohann Nédélec et al.   CELL

Identification of context-dependent expression quantitative trait loci in whole blood

(2016) Daria V Zhernakova et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

(2013) Maura Costello et al.   NUCLEIC ACIDS RESEARCH

Functional IL6R 358Ala Allele Impairs Classical IL-6 Receptor Signaling and Influences Risk of Diverse Inflammatory Diseases

(2013) Ricardo C. Ferreira et al.   PLoS Genetics

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

TET2andDNMT3AMutations in Human T-Cell Lymphoma

(2012) Lucile Couronné et al.   NEW ENGLAND JOURNAL OF MEDICINE

Tcl1 protein functions as an inhibitor of de novo DNA methylation in B-cell chronic lymphocytic leukemia (CLL)

(2012) A. Palamarchuk et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Conditional ablation of CD205+ conventional dendritic cells impacts the regulation of T-cell immunity and homeostasis in vivo

(2012) T. Fukaya et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Anemia and the onset of gout in a population-based cohort of adults: Atherosclerosis Risk in Communities study

(2012) Mara A McAdams-DeMarco et al.   ARTHRITIS RESEARCH & THERAPY

TET2 Inactivation Results in Pleiotropic Hematopoietic Abnormalities in Mouse and Is a Recurrent Event during Human Lymphomagenesis

(2011) Cyril Quivoron et al.   CANCER CELL

Self-Renewing Hematopoietic Stem Cell Is the Primary Target in Pathogenesis of Human Chronic Lymphocytic Leukemia

(2011) Yoshikane Kikushige et al.   CANCER CELL

Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA

(2011) Rudolf S. N. Fehrmann et al.   PLoS Genetics

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

Estimating Odds Ratios in Genome Scans: An Approximate Conditional Likelihood Approach

(2008) Arpita Ghosh et al.   AMERICAN JOURNAL OF HUMAN GENETICS