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

The longitudinal dynamics and natural history of clonal haematopoiesis

(2022) Margarete A. Fabre et al.   NATURE

PICS2: next-generation fine mapping via probabilistic identification of causal SNPs

(2021) Kimberly E Taylor et al.   BIOINFORMATICS

Loss of the exocyst complex component EXOC3 promotes hemostasis and accelerates arterial thrombosis

(2021) Tony G. Walsh et al.   Blood Advances

Clonal hematopoiesis associated with epigenetic aging and clinical outcomes

(2021) Daniel Nachun et al.   AGING CELL

Clinical relevance of clonal hematopoiesis in the oldest-old population

(2021) Marianna Rossi et al.   BLOOD

The clinical and functional effects of TERT variants in myelodysplastic syndrome

(2021) Christopher R. Reilly et al.   BLOOD

Rare variant contribution to human disease in 281,104 UK Biobank exomes

(2021) Quanli Wang et al.   NATURE

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

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

Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

(2020) Sonia Shah et al.   Nature Communications

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

(2020) Konrad J. Karczewski et al.   NATURE

Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis

(2020) Tom G. Richardson et al.   PLOS MEDICINE

Male predominance in AML is associated with specific preleukemic mutations

(2020) Aviv De-Morgan et al.   LEUKEMIA

High-definition likelihood inference of genetic correlations across human complex traits

(2020) Zheng Ning et al.   NATURE GENETICS

SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update)

(2020) Jorge Oscanoa et al.   NUCLEIC ACIDS RESEARCH

The Polygenic and Monogenic Basis of Blood Traits and Diseases

(2020) Dragana Vuckovic et al.   CELL

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

(2020) Erik L. Bao et al.   NATURE

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

Cancer therapy shapes the fitness landscape of clonal hematopoiesis

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

Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics

(2020) Maya Ghoussaini et al.   NUCLEIC ACIDS RESEARCH

canSAR: update to the cancer translational research and drug discovery knowledgebase

(2020) Costas Mitsopoulos et al.   NUCLEIC ACIDS RESEARCH

Open Targets Platform: supporting systematic drug–target identification and prioritisation

(2020) David Ochoa et al.   NUCLEIC ACIDS RESEARCH

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

(2019) Mengzhen Liu et al.   NATURE GENETICS

Developing a network view of type 2 diabetes risk pathways through integration of genetic, genomic and functional data

(2019) Juan Fernández-Tajes et al.   Genome Medicine

Interrogation of human hematopoiesis at single-cell and single-variant resolution

(2019) Jacob C. Ulirsch et al.   NATURE GENETICS

NetworkAnalyst 3.0: a visual analytics platform for comprehensive gene expression profiling and meta-analysis

(2019) Guangyan Zhou et al.   NUCLEIC ACIDS RESEARCH

PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations

(2019) Mihir A Kamat et al.   BIOINFORMATICS

A comprehensive single cell transcriptional landscape of human hematopoietic progenitors

(2019) Danilo Pellin et al.   Nature Communications

Concordance for clonal hematopoiesis is limited in elderly twins

(2019) Margarete Alice Fabre et al.   BLOOD

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

Clonal hematopoiesis in human aging and disease

(2019) Siddhartha Jaiswal et al.   SCIENCE

Integrated Single-Cell Analysis Maps the Continuous Regulatory Landscape of Human Hematopoietic Differentiation

(2018) Jason D. Buenrostro et al.   CELL

The GNAS R201C mutation associated with clonal hematopoiesis supports transplantable hematopoietic stem cell activity

(2018) Elizabeth L. Ostrander et al.   EXPERIMENTAL HEMATOLOGY

Microbial signals drive pre-leukaemic myeloproliferation in a Tet2-deficient host

(2018) Marlies Meisel et al.   NATURE

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

(2018) Rainer Malik et al.   NATURE GENETICS

Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci

(2018) Fredrick R. Schumacher et al.   NATURE GENETICS

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

(2018) Hilary K. Finucane et al.   NATURE GENETICS

Somatic mutations precede acute myeloid leukemia years before diagnosis

(2018) Pinkal Desai et al.   NATURE MEDICINE

DNA methylation-based biomarkers and the epigenetic clock theory of ageing

(2018) Steve Horvath et al.   NATURE REVIEWS GENETICS

Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians

(2018) Neil M Davies et al.   BMJ-British Medical Journal

Reading Mendelian randomisation studies: a guide, glossary, and checklist for clinicians

(2018) Neil M Davies et al.   BMJ-British Medical Journal

The MR-Base platform supports systematic causal inference across the human phenome

(2018) Gibran Hemani et al.   eLife

Somatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging

(2018) Lei Zhang et al.   Annual Review of Genetics

Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry

(2018) Sara L Pulit et al.   HUMAN MOLECULAR GENETICS

Prediction of acute myeloid leukaemia risk in healthy individuals

(2018) Sagi Abelson et al.   NATURE

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

(2018) Jonas B. Nielsen et al.   NATURE GENETICS

Identification of nine new susceptibility loci for endometrial cancer

(2018) Tracy A. O’Mara et al.   Nature Communications

The Chemokine CCL3 Regulates Myeloid Differentiation and Hematopoietic Stem Cell Numbers

(2018) Rhonda J. Staversky et al.   Scientific Reports

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

(2018) Anubha Mahajan et al.   NATURE GENETICS

GENCODE reference annotation for the human and mouse genomes

(2018) Adam Frankish et al.   NUCLEIC ACIDS RESEARCH

COSMIC: the Catalogue Of Somatic Mutations In Cancer

(2018) John G Tate et al.   NUCLEIC ACIDS RESEARCH

Association of Mutations Contributing to Clonal Hematopoiesis With Prognosis in Chronic Ischemic Heart Failure

(2018) Lena Dorsheimer et al.   JAMA Cardiology

Clonal Hematopoiesis Associated With Adverse Outcomes After Autologous Stem-Cell Transplantation for Lymphoma

(2017) Christopher J. Gibson et al.   JOURNAL OF CLINICAL ONCOLOGY

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

(2017) Catherine M Phelan et al.   NATURE GENETICS

Network propagation: a universal amplifier of genetic associations

(2017) Lenore Cowen et al.   NATURE REVIEWS GENETICS

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

PhenoScanner: a database of human genotype–phenotype associations

(2016) James R. Staley et al.   BIOINFORMATICS

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

(2016) D. A. Hinds et al.   BLOOD

Enhancing the Cytotoxic Effects of PARP Inhibitors with DNA Demethylating Agents – A Potential Therapy for Cancer

(2016) Nidal E. Muvarak et al.   CANCER CELL

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

(2016) William J. Astle et al.   CELL

Consistent Estimation in Mendelian Randomization with Some Invalid Instruments Using a Weighted Median Estimator

(2016) Jack Bowden et al.   GENETIC EPIDEMIOLOGY

Lineage-specific and single-cell chromatin accessibility charts human hematopoiesis and leukemia evolution

(2016) M Ryan Corces et al.   NATURE GENETICS

Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer

(2016) Corina Lesseur et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

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

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

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

(2015) Majid Nikpay 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

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

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

SIFT missense predictions for genomes

(2015) Robert Vaser et al.   Nature Protocols

Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia

(2015) Tetsuichi Yoshizato et al.   NEW ENGLAND JOURNAL OF MEDICINE

Somatic mutation in cancer and normal cells

(2015) I. Martincorena et al.   SCIENCE

Integration of Hedgehog and mutant FLT3 signaling in myeloid leukemia

(2015) Yiting Lim et al.   Science Translational Medicine

Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis

(2015) Thomas McKerrell et al.   Cell Reports

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

Mendelian randomization: genetic anchors for causal inference in epidemiological studies

(2014) G. Davey Smith et al.   HUMAN MOLECULAR GENETICS

Genetic and epigenetic fine mapping of causal autoimmune disease variants

(2014) Kyle Kai-How Farh et al.   NATURE

Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer

(2014) Yufei Wang et al.   NATURE GENETICS

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie 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

STRING v10: protein–protein interaction networks, integrated over the tree of life

(2014) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Mendelian Randomization Analysis With Multiple Genetic Variants Using Summarized Data

(2013) Stephen Burgess et al.   GENETIC EPIDEMIOLOGY

Somatic SETBP1 mutations in myeloid malignancies

(2013) Hideki Makishima et al.   NATURE GENETICS

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia

(2012) Rocco Piazza et al.   NATURE GENETICS

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

(2012) Jian Yang et al.   NATURE GENETICS

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The transcription factor Srf regulates hematopoietic stem cell adhesion

(2010) C. Ragu et al.   BLOOD

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS