Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis

Interleukin-6 Receptor Polymorphism Attenuates Clonal Hematopoiesis-Mediated Coronary Artery Disease Risk Among 451 180 Individuals in the UK Biobank

(2023) Caitlyn Vlasschaert et al.   CIRCULATION

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis

(2023) Joshua S. Weinstock et al.   NATURE

Clonal haematopoiesis and risk of chronic liver disease

(2023) Waihay J. Wong et al.   NATURE

Preneoplastic somatic mutations including MYD88 L265P in lymphoplasmacytic lymphoma

(2022) Sara Rodriguez et al.   Science Advances

Clonal dynamics of haematopoiesis across the human lifespan

(2022) Emily Mitchell et al.   NATURE

Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease

(2022) Seyhan Yazar et al.   SCIENCE

Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential

(2022) Tetsushi Nakao et al.   Science Advances

The sequences of 150,119 genomes in the UK Biobank

(2022) Bjarni V. Halldorsson et al.   NATURE

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

(2022) Siddhartha P. Kar et al.   NATURE GENETICS

Discovering the drivers of clonal hematopoiesis

(2022) Oriol Pich et al.   Nature Communications

Multiomics study of nonalcoholic fatty liver disease

(2022) Gardar Sveinbjornsson et al.   NATURE GENETICS

Clonal Hematopoiesis and Its Impact on Human Health

(2022) Herra Ahmad et al.   Annual Review of Medicine

Common and rare variant associations with clonal haematopoiesis phenotypes

(2022) Michael D. Kessler et al.   NATURE

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

(2022) Elliot Sollis et al.   NUCLEIC ACIDS RESEARCH

A compendium of uniformly processed human gene expression and splicing quantitative trait loci

(2021) Nurlan Kerimov 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

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

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

The stem cell revolution: on the role of CD164 as a human stem cell marker

(2021) Suzanne M. Watt et al.   npj Regenerative Medicine

Polygenic basis and biomedical consequences of telomere length variation

(2021) Veryan Codd et al.   NATURE GENETICS

Large-scale integration of the plasma proteome with genetics and disease

(2021) Egil Ferkingstad et al.   NATURE GENETICS

Distinction of lymphoid and myeloid clonal hematopoiesis

(2021) Abhishek Niroula et al.   NATURE MEDICINE

The Modes of Dysregulation of the Proto-Oncogene T-Cell Leukemia/Lymphoma 1A

(2021) Johanna Stachelscheid et al.   Cancers

Mutational patterns and their correlation to CHIP-related mutations and age in hematological malignancies

(2021) Anna Stengel et al.   Blood Advances

Clonal hematopoiesis and inflammation: Partners in leukemogenesis and comorbidity

(2020) Elina K. Cook et al.   EXPERIMENTAL HEMATOLOGY

Cancer and myeloid clonal evolution in the short telomere syndromes

(2020) Kristen E Schratz et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Clonal myelopoiesis in the UK Biobank cohort: ASXL1 mutations are strongly associated with smoking

(2020) Ahmed A. Z. Dawoud et al.   LEUKEMIA

Chromosomal alterations among age-related haematopoietic clones in Japan

(2020) Chikashi Terao et al.   NATURE

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

(2020) Erik L. Bao et al.   NATURE

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

(2020) Alexander G. Bick et al.   NATURE

Cancer therapy shapes the fitness landscape of clonal hematopoiesis

(2020) Kelly L. Bolton et al.   NATURE GENETICS

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Clinicopathological characterization of chronic lymphocytic leukemia with MYD88 mutations: L265P and non-L265P mutations are associated with different features

(2020) Wen Shuai et al.   Blood Cancer Journal

Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms

(2020) Matteo Giaccherini et al.   Blood Cancer Journal

Clinical Insights into the Origins of Thrombosis in Myeloproliferative Neoplasms

(2020) Alison R. Moliterno et al.   BLOOD

Clonal haematopoiesis: connecting ageing and inflammation in cardiovascular disease

(2019) Siddhartha Jaiswal et al.   Nature Reviews Cardiology

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

GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation

(2019) Chikashi Terao et al.   Nature Communications

Environmental influences on clonal hematopoiesis

(2019) Katherine Y. King et al.   EXPERIMENTAL HEMATOLOGY

MYD88L265P Mutation in Lymphoid Malignancies

(2018) Xinfang Yu et al.   CANCER RESEARCH

Dysfunctional telomeres and hematological disorders

(2018) Elena Fiorini et al.   DIFFERENTIATION

Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis

(2018) Christopher Maximilian Arends et al.   LEUKEMIA

A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver

(2018) Tobias Strunz et al.   Scientific Reports

An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome

(2018) Christopher E. Gillies et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms

(2018) Rebecca F. McClure et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia

(2018) Andrew Chase et al.   LEUKEMIA

Insights into imprinting from parent-of-origin phased methylomes and transcriptomes

(2018) Florian Zink et al.   NATURE GENETICS

Population- and individual-specific regulatory variation in Sardinia

(2017) Mauro Pala et al.   NATURE GENETICS

Graphtyper enables population-scale genotyping using pangenome graphs

(2017) Hannes P Eggertsson et al.   NATURE GENETICS

Genetic variants associated with mosaic Y chromosome loss highlight cell cycle genes and overlap with cancer susceptibility

(2017) Daniel J Wright et al.   NATURE GENETICS

Annotation-free quantification of RNA splicing using LeafCutter

(2017) Yang I. Li et al.   NATURE GENETICS

An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome

(2017) Bernard Ng et al.   NATURE NEUROSCIENCE

Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease

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

Whole genome characterization of sequence diversity of 15,220 Icelanders

(2017) Hákon Jónsson et al.   Scientific Data

Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms

(2016) D. A. Hinds et al.   BLOOD

Genetic Variation Associated with Longer Telomere Length Increases Risk of Chronic Lymphocytic Leukemia

(2016) J. Ojha et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

(2016) Lu Chen et al.   CELL

Hematopoietic Stem Cells Are the Major Source of Multilineage Hematopoiesis in Adult Animals

(2016) Catherine M. Sawai et al.   IMMUNITY

PPM1DMosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations

(2016) Paul D. P. Pharoah et al.   JNCI-Journal of the National Cancer Institute

Near-optimal probabilistic RNA-seq quantification

(2016) Nicolas L Bray et al.   NATURE BIOTECHNOLOGY

Weighting sequence variants based on their annotation increases power of whole-genome association studies

(2016) Gardar Sveinbjornsson et al.   NATURE GENETICS

Mosaic loss of chromosome Y is associated with common variation near TCL1A

(2016) Weiyin Zhou et al.   NATURE GENETICS

Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases

(2016) O. Franzen et al.   SCIENCE

PPM1DMosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations

(2016) Paul D. P. Pharoah et al.   JNCI-Journal of the National Cancer Institute

Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes

(2015) D. P. Steensma et al.   BLOOD

Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression

(2015) J. Bowden et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

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

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

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

Nonsense-mediated mRNA decay: an intricate machinery that shapes transcriptomes

(2015) Søren Lykke-Andersen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Towards an understanding of the structure and function of MTA1

(2014) Christopher J. Millard et al.   CANCER AND METASTASIS REVIEWS

Mutations in G protein β subunits promote transformation and kinase inhibitor resistance

(2014) Akinori Yoda et al.   NATURE MEDICINE

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

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

Common Genetic Variants Modulate Pathogen-Sensing Responses in Human Dendritic Cells

(2014) M. N. Lee et al.   SCIENCE

Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics

(2014) Claudia Giambartolomei et al.   PLoS Genetics

A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines

(2013) L. Liang et al.   GENOME RESEARCH

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies

(2012) Seunggeun Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Cotinine Conundrum--A Step Forward but Questions Remain

(2012) M. R. Spitz et al.   JNCI-Journal of the National Cancer Institute

Association Between Genetic Variants on Chromosome 15q25 Locus and Objective Measures of Tobacco Exposure

(2012) Marcus R. Munafò et al.   JNCI-Journal of the National Cancer Institute

Mapping cis- and trans-regulatory effects across multiple tissues in twins

(2012) Elin Grundberg et al.   NATURE GENETICS

Detectable clonal mosaicism and its relationship to aging and cancer

(2012) Kevin B Jacobs et al.   NATURE GENETICS

Detectable clonal mosaicism from birth to old age and its relationship to cancer

(2012) Cathy C Laurie et al.   NATURE GENETICS

MYD88 L265P Somatic Mutation in Waldenström's Macroglobulinemia

(2012) Steven P. Treon et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lung eQTLs to Help Reveal the Molecular Underpinnings of Asthma

(2012) Ke Hao et al.   PLoS Genetics

Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility

(2010) Tanja Zeller et al.   PLoS One

Somatic and germline genetics at the JAK2 locus

(2009) Peter J Campbell   NATURE GENETICS

Detection of sharing by descent, long-range phasing and haplotype imputation

(2008) Augustine Kong et al.   NATURE GENETICS