A pan-tissue survey of mosaic chromosomal alterations in 948 individuals

The origins and functional effects of postzygotic mutations throughout the human life span

(2023) Nicole B. Rockweiler et al.   SCIENCE

Chromosomal imbalances detected via RNA-sequencing in 28 cancers

(2022) Zuhal Ozcan et al.   BIOINFORMATICS

Expansion of Gastric Intestinal Metaplasia with Copy Number Aberrations Contributes to Field Cancerization

(2022) Ken Kumagai et al.   CANCER RESEARCH

Somatic mutation rates scale with lifespan across mammals

(2022) Alex Cagan et al.   NATURE

Haplotype-aware analysis of somatic copy number variations from single-cell transcriptomes

(2022) Teng Gao et al.   NATURE BIOTECHNOLOGY

Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements

(2022) Lovelace J. Luquette et al.   NATURE GENETICS

Delineating copy number and clonal substructure in human tumors from single-cell transcriptomes

(2021) Ruli Gao et al.   NATURE BIOTECHNOLOGY

Interplay between chromosomal alterations and gene mutations shapes the evolutionary trajectory of clonal hematopoiesis

(2021) Teng Gao et al.   Nature Communications

Increased stem cell proliferation in atherosclerosis accelerates clonal hematopoiesis

(2021) Alexander Heyde et al.   CELL

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

(2021) Daniel Taliun et al.   NATURE

Chronic infection drives Dnmt3a-loss-of-function clonal hematopoiesis via IFNγ signaling

(2021) Daniel Hormaechea-Agulla et al.   Cell Stem Cell

Landmarks of human embryonic development inscribed in somatic mutations

(2021) Sara Bizzotto et al.   SCIENCE

A body map of somatic mutagenesis in morphologically normal human tissues

(2021) Ruoyan Li et al.   NATURE

Extensive phylogenies of human development inferred from somatic mutations

(2021) Tim H. H. Coorens et al.   NATURE

Clonal dynamics in early human embryogenesis inferred from somatic mutation

(2021) Seongyeol Park et al.   NATURE

The mutational landscape of human somatic and germline cells

(2021) Luiza Moore et al.   NATURE

Mutant clones in normal epithelium outcompete and eliminate emerging tumours

(2021) B. Colom et al.   NATURE

Convergent somatic mutations in metabolism genes in chronic liver disease

(2021) Stanley W. K. Ng et al.   NATURE

Tobacco smoking and somatic mutations in human bronchial epithelium

(2020) Kenichi Yoshida et al.   NATURE

CaSpER identifies and visualizes CNV events by integrative analysis of single-cell or bulk RNA-sequencing data

(2020) Akdes Serin Harmanci et al.   Nature Communications

Spatial competition shapes the dynamic mutational landscape of normal esophageal epithelium

(2020) Bartomeu Colom et al.   NATURE GENETICS

The epidemiology of aggressive pituitary tumors (and its challenges)

(2020) Olaf M. Dekkers et al.   REVIEWS IN ENDOCRINE & METABOLIC DISORDERS

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

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

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Selection of oncogenic mutant clones in normal human skin varies with body site

(2020) Joanna C Fowler et al.   Cancer Discovery

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

(2020) Peter Ellis et al.   Nature Protocols

Uniparental disomy: Origin, frequency, and clinical significance

(2020) Peter Benn   PRENATAL DIAGNOSIS

Inflammation-induced DNA damage, mutations and cancer

(2019) Jennifer Kay et al.   DNA REPAIR

RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues

(2019) Keren Yizhak et al.   SCIENCE

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

Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer

(2019) Y. A. Jakubek et al.   NATURE BIOTECHNOLOGY

Clonal hematopoiesis in human aging and disease

(2019) Siddhartha Jaiswal et al.   SCIENCE

Linking transcriptional and genetic tumor heterogeneity through allele analysis of single-cell RNA-seq data

(2018) Jean Fan et al.   GENOME RESEARCH

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

(2018) Po-Ru Loh et al.   NATURE

The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature

(2018) Gareth J. Inman et al.   Nature Communications

Inhibition of Inflammatory Signaling in Tet2 Mutant Preleukemic Cells Mitigates Stress-Induced Abnormalities and Clonal Hematopoiesis

(2018) Zhigang Cai et al.   Cell Stem Cell

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

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Comprehensive analysis of normal adjacent to tumor transcriptomes

(2017) Dvir Aran et al.   Nature Communications

Landscape of Genomic Alterations in Pituitary Adenomas

(2016) Wenya Linda Bi et al.   CLINICAL CANCER RESEARCH

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

(2016) Francis Blokzijl et al.   NATURE

Reference-based phasing using the Haplotype Reference Consortium panel

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

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

(2016) Ximena Bonilla et al.   NATURE GENETICS

Characterizing transcriptional heterogeneity through pathway and gene set overdispersion analysis

(2016) Jean Fan et al.   NATURE METHODS

Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype

(2016) NIU LI et al.   Experimental and Therapeutic Medicine

Rare variant phasing and haplotypic expression from RNA sequencing with phASER

(2016) Stephane E. Castel et al.   Nature Communications

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   BIOPRESERVATION AND BIOBANKING

Random monoallelic expression of autosomal genes: stochastic transcription and allele-level regulation

(2015) Björn Reinius et al.   NATURE REVIEWS GENETICS

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

(2015) I. Martincorena et al.   SCIENCE

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   Biopreservation and Biobanking

Regulation of the adrenocortical stem cell niche: implications for disease

(2014) Elisabeth M. Walczak et al.   Nature Reviews Endocrinology

Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome

(2014) Felix Beuschlein et al.   NEW ENGLAND JOURNAL OF MEDICINE

Single-cell RNA-seq highlights intratumoral heterogeneity in primary glioblastoma

(2014) A. P. Patel et al.   SCIENCE

The Cancer Genome Atlas Pan-Cancer analysis project

(2013) John N Weinstein et al.   NATURE GENETICS

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

Analysis of the Role of Igf2 in Adrenal Tumour Development in Transgenic Mouse Models

(2012) Coralie Drelon et al.   PLoS One

Markers of fibrosis and epithelial to mesenchymal transition demonstrate field cancerization in histologically normal tissue adjacent to breast tumors

(2010) Kristina A. Trujillo et al.   INTERNATIONAL JOURNAL OF CANCER

Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis

(2010) Mary Ellen Moynahan et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mammary field cancerization: molecular evidence and clinical importance

(2009) Christopher M. Heaphy et al.   BREAST CANCER RESEARCH AND TREATMENT

Cancer-related inflammation

(2008) Alberto Mantovani et al.   NATURE