Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

(2018) Donna M. Werling et al.   NATURE GENETICS

Landscape of X chromosome inactivation across human tissues

(2017) Taru Tukiainen et al.   NATURE

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

Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease

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

Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue

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

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

(2016) D. A. Hinds et al.   BLOOD

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

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

(2016) Weiyin Zhou 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

Mosaicism in health and disease — clones picking up speed

(2016) Lars A. Forsberg et al.   NATURE REVIEWS GENETICS

Developing and evaluating polygenic risk prediction models for stratified disease prevention

(2016) Nilanjan Chatterjee et al.   NATURE REVIEWS GENETICS

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

(2016) Mitchell J. Machiela et al.   Nature Communications

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

Non-coding recurrent mutations in chronic lymphocytic leukaemia

(2015) Xose S. Puente et al.   NATURE

Mutations driving CLL and their evolution in progression and relapse

(2015) Dan A. Landau et al.   NATURE

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis

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

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

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

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

(2015) Thomas McKerrell et al.   Cell Reports

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

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

The germline sequence variant rs2736100_C in TERT associates with myeloproliferative neoplasms

(2014) A Oddsson et al.   LEUKEMIA

Monoclonal B-cell lymphocytosis is characterized by mutations in CLL putative driver genes and clonal heterogeneity many years before disease progression

(2014) J Ojha et al.   LEUKEMIA

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

Smoking is associated with mosaic loss of chromosome Y

(2014) J. P. Dumanski et al.   SCIENCE

Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia

(2013) Dan A. Landau et al.   CELL

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

(2013) Teresa Davoli et al.   CELL

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

The Life History of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

Haplotype-based profiling of subtle allelic imbalance with SNP arrays

(2012) S. Vattathil et al.   GENOME RESEARCH

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

Estimating Missing Heritability for Disease from Genome-wide Association Studies

(2011) Sang Hong Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A germline variant in the TP53 polyadenylation signal confers cancer susceptibility

(2011) Simon N Stacey et al.   NATURE GENETICS

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

R-Gada: a fast and flexible pipeline for copy number analysis in association studies

(2010) Roger Pique-Regi et al.   BMC BIOINFORMATICS

Improved IBD detection using incomplete haplotype information

(2010) Giulio Genovese et al.   BMC GENETICS

Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1

(2010) A Tefferi   LEUKEMIA

The landscape of somatic copy-number alteration across human cancers

(2010) Rameen Beroukhim et al.   NATURE

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

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

(2010) K. A. Choate et al.   SCIENCE

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

B-Cell Clones as Early Markers for Chronic Lymphocytic Leukemia

(2009) Ola Landgren et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole population, genome-wide mapping of hidden relatedness

(2008) A. Gusev et al.   GENOME RESEARCH

Monoclonal B-Cell Lymphocytosis and Chronic Lymphocytic Leukemia

(2008) Andy C. Rawstron et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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