Monogenic and polygenic inheritance become instruments for clonal selection

Genetic predisposition to mosaic Y chromosome loss in blood

(2019) Deborah J. Thompson et al.   NATURE

Mixed-model association for biobank-scale datasets

(2018) Po-Ru Loh et al.   NATURE GENETICS

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

(2018) Po-Ru Loh et al.   NATURE

Prediction of acute myeloid leukaemia risk in healthy individuals

(2018) Sagi Abelson et al.   NATURE

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

(2018) Amit V. Khera et al.   NATURE GENETICS

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

(2018) Allison A. Regier et al.   Nature Communications

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease

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

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue

(2016) Selina Vattathil et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia

(2016) D. A. Arber et al.   BLOOD

Reference-based phasing using the Haplotype Reference Consortium panel

(2016) Po-Ru Loh et al.   NATURE GENETICS

Fast and accurate long-range phasing in a UK Biobank cohort

(2016) Po-Ru Loh et al.   NATURE GENETICS

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Characterization of Large Structural Genetic Mosaicism in Human Autosomes

(2015) Mitchell J. Machiela et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

(2015) A Chase et al.   LEUKEMIA

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

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

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank

(2015) Louise V Wain et al.   Lancet Respiratory Medicine

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Genetic Variation in Human DNA Replication Timing

(2014) Amnon Koren et al.   CELL

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits

(2014) Paul L Auer et al.   NATURE GENETICS

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

Cumulative Haploinsufficiency and Triplosensitivity Drive Aneuploidy Patterns and Shape the Cancer Genome

(2013) Teresa Davoli et al.   CELL

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

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

Robust relationship inference in genome-wide association studies

(2010) Ani Manichaikul et al.   BIOINFORMATICS

InterLymph hierarchical classification of lymphoid neoplasms for epidemiologic research based on the WHO classification (2008): update and future directions

(2010) J. J. Turner et al.   BLOOD

Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies

(2010) C. O'Keefe et al.   BLOOD

Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

(2010) K. A. Choate et al.   SCIENCE

Multiple roles for MRE11 at uncapped telomeres

(2009) Yibin Deng et al.   NATURE

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms

(2009) Damla Olcaydu et al.   NATURE GENETICS

A germline JAK2 SNP is associated with predisposition to the development of JAK2V617F-positive myeloproliferative neoplasms

(2009) Outi Kilpivaara et al.   NATURE GENETICS

JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms

(2009) Amy V Jones et al.   NATURE GENETICS

Whole population, genome-wide mapping of hidden relatedness

(2008) A. Gusev et al.   GENOME RESEARCH

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

(2008) Sharon J. Diskin et al.   NUCLEIC ACIDS RESEARCH