Somatic mutations provide important and unique insights into the biology of complex diseases

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

(2021) Rachel E. Rodin et al.   NATURE NEUROSCIENCE

Increased stem cell proliferation in atherosclerosis accelerates clonal hematopoiesis

(2021) Alexander Heyde et al.   CELL

Development, maturation, and maintenance of human prostate inferred from somatic mutations

(2021) Sebastian Grossmann et al.   Cell Stem Cell

Accurate SNV detection in single cells by transposon-based whole-genome amplification of complementary strands

(2021) Dong Xing et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Somatic mutation landscapes at single-molecule resolution

(2021) Federico Abascal et al.   NATURE

Somatic Mutations in “Benign” Disease

(2021) Satu Mustjoki et al.   NEW ENGLAND JOURNAL OF MEDICINE

Tobacco smoking and somatic mutations in human bronchial epithelium

(2020) Kenichi Yoshida et al.   NATURE

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

(2020) Eva Gonçalves Serra et al.   Nature Communications

The mutational landscape of normal human endometrial epithelium

(2020) Luiza Moore et al.   NATURE

Spatial competition shapes the dynamic mutational landscape of normal esophageal epithelium

(2020) Bartomeu Colom et al.   NATURE GENETICS

The evolutionary dynamics and fitness landscape of clonal hematopoiesis

(2020) Caroline J. Watson et al.   SCIENCE

Somatic Evolution in Non-neoplastic IBD-Affected Colon

(2020) Sigurgeir Olafsson et al.   CELL

Chromosomal alterations among age-related haematopoietic clones in Japan

(2020) Chikashi Terao et al.   NATURE

Monogenic and polygenic inheritance become instruments for clonal selection

(2020) Po-Ru Loh et al.   NATURE

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

(2020) Alexander G. Bick et al.   NATURE

Extensive heterogeneity in somatic mutation and selection in the human bladder

(2020) Andrew R. J. Lawson et al.   SCIENCE

Macroscopic somatic clonal expansion in morphologically normal human urothelium

(2020) Ruoyan Li et al.   SCIENCE

Reliable detection of somatic mutations in solid tissues by laser-capture microdissection and low-input DNA sequencing

(2020) Peter Ellis et al.   Nature Protocols

Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women

(2020) Michael C. Honigberg et al.   CIRCULATION

Cell-level somatic mutation detection from single-cell RNA sequencing

(2019) Trung Nghia Vu et al.   BIOINFORMATICS

Somatic Mutations Increase Hepatic Clonal Fitness and Regeneration in Chronic Liver Disease

(2019) Min Zhu et al.   CELL

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

Somatic mutations and clonal dynamics in healthy and cirrhotic human liver

(2019) Simon F. Brunner et al.   NATURE

The landscape of somatic mutation in normal colorectal epithelial cells

(2019) Henry Lee-Six et al.   NATURE

Clonal hematopoiesis in human aging and disease

(2019) Siddhartha Jaiswal et al.   SCIENCE

Identification of somatic mutations in single cell DNA-seq using a spatial model of allelic imbalance

(2019) Lovelace J. Luquette et al.   Nature Communications

Frequent mutations that converge on the NFKBIZ pathway in ulcerative colitis

(2019) Nobuyuki Kakiuchi et al.   NATURE

Somatic inflammatory gene mutations in human ulcerative colitis epithelium

(2019) Kosaku Nanki et al.   NATURE

CRISPR-Mediated Gene Editing to Assess the Roles of Tet2 and Dnmt3a in Clonal Hematopoiesis and Cardiovascular DiseaseNovelty and Significance

(2018) Soichi Sano et al.   CIRCULATION RESEARCH

Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

(2018) Irene Franco et al.   Nature Communications

Y chromosome mosaicism is associated with age-related macular degeneration

(2018) Felix Grassmann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

(2018) Po-Ru Loh et al.   NATURE

Population dynamics of normal human blood inferred from somatic mutations

(2018) Henry Lee-Six et al.   NATURE

Clonal Expansion and Diversification of Cancer-Associated Mutations in Endometriosis and Normal Endometrium

(2018) Kazuaki Suda et al.   Cell Reports

Age-related remodelling of oesophageal epithelia by mutated cancer drivers

(2018) Akira Yokoyama et al.   NATURE

Somatic mutant clones colonize the human esophagus with age

(2018) Iñigo Martincorena et al.   SCIENCE

One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin

(2017) Alexej Abyzov et al.   GENOME RESEARCH

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

(2017) Sanna Gudmundsson et al.   HUMAN MOLECULAR 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

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

(2017) Katrina M de Lange et al.   NATURE GENETICS

Accurate identification of single-nucleotide variants in whole-genome-amplified single cells

(2017) Xiao Dong et al.   NATURE METHODS

Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease

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

Aging and neurodegeneration are associated with increased mutations in single human neurons

(2017) Michael A. Lodato et al.   SCIENCE

Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis

(2017) Taejeong Bae et al.   SCIENCE

Clonal hematopoiesis associated with TET2 deficiency accelerates atherosclerosis development in mice

(2017) José J. Fuster et al.   SCIENCE

Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

(2017) Lam C. Tsoi et al.   Nature Communications

Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer

(2017) Hannah Carter et al.   Cancer Discovery

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

(2016) Jan P. Dumanski 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

Intestinal Interleukin-17 Receptor Signaling Mediates Reciprocal Control of the Gut Microbiota and Autoimmune Inflammation

(2016) Pawan Kumar et al.   IMMUNITY

Tissue-specific mutation accumulation in human adult stem cells during life

(2016) Francis Blokzijl et al.   NATURE

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

(2016) Weiyin Zhou et al.   NATURE GENETICS

Mendelian Randomization: New Applications in the Coming Age of Hypothesis-Free Causality

(2015) David M. Evans et al.   Annual Review of Genomics and Human Genetics

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

(2015) Jae Seok Lim et al.   NATURE MEDICINE

Somatic mutation in cancer and normal cells

(2015) I. Martincorena et al.   SCIENCE

High burden and pervasive positive selection of somatic mutations in normal human skin

(2015) I. Martincorena et al.   SCIENCE

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

Mendelian randomization: genetic anchors for causal inference in epidemiological studies

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

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

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

(2012) Alexej Abyzov et al.   NATURE

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

(2010) K. A. Choate et al.   SCIENCE

Revertant mosaicism in skin: natural gene therapy

(2010) Joey E. Lai-Cheong et al.   TRENDS IN MOLECULAR MEDICINE

Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome

(2009) K Boztug et al.   CLINICAL GENETICS

Revertant Mosaicism — Patchwork in the Skin

(2009) Marcel F. Jonkman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology

(2007) Debbie A. Lawlor et al.   STATISTICS IN MEDICINE