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

Spatially resolved clonal copy number alterations in benign and malignant tissue

(2022) Andrew Erickson et al.   NATURE

Developmental and temporal characteristics of clonal sperm mosaicism

(2021) Xiaoxu Yang et al.   CELL

Differences in the number of de novo mutations between individuals are due to small family-specific effects and stochasticity

(2021) Jakob M. Goldmann et al.   GENOME RESEARCH

Extensive phylogenies of human development inferred from somatic mutations

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

The mutational landscape of human somatic and germline cells

(2021) Luiza Moore et al.   NATURE

Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome

(2021) Eisa Mahyari et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single-cell transcriptomic characterization of a gastrulating human embryo

(2021) Richard C. V. Tyser et al.   NATURE

SomaMutDB: a database of somatic mutations in normal human tissues

(2021) Shixiang Sun et al.   NUCLEIC ACIDS RESEARCH

A time-resolved multi-omic atlas of the developing mouse liver

(2020) Tongqing Gong et al.   GENOME RESEARCH

Pan-cancer analysis of whole genomes

(2020)   NATURE

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Single-cell analysis reveals different age-related somatic mutation profiles between stem and differentiated cells in human liver

(2020) K. Brazhnik et al.   Science Advances

Photoprotection and Skin Pigmentation: Melanin-Related Molecules and Some Other New Agents Obtained from Natural Sources

(2020) Francisco Solano   MOLECULES

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

(2020) Konrad J. Karczewski et al.   NATURE

Measuring the distribution of fitness effects in somatic evolution by combining clonal dynamics with dN/dS ratios

(2020) Marc J Williams et al.   eLife

Non-invasive early detection of cancer four years before conventional diagnosis using a blood test

(2020) Xingdong Chen et al.   Nature Communications

The impact of sex on gene expression across human tissues

(2020) Meritxell Oliva et al.   SCIENCE

The effect of age on the acquisition and selection of cancer driver mutations in sun-exposed normal skin

(2020) B. Hernando et al.   ANNALS OF ONCOLOGY

Early divergence of mutational processes in human fetal tissues

(2019) Ewart Kuijk et al.   Science Advances

RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues

(2019) Keren Yizhak et al.   SCIENCE

TwinsUK: The UK Adult Twin Registry Update

(2019) Serena Verdi et al.   Twin Research and Human Genetics

The genetics of human ageing

(2019) David Melzer et al.   NATURE REVIEWS GENETICS

New developments on the Encyclopedia of DNA Elements (ENCODE) data portal

(2019) Yunhai Luo et al.   NUCLEIC ACIDS RESEARCH

Clonal hematopoiesis in human aging and disease

(2019) Siddhartha Jaiswal et al.   SCIENCE

Similarities and differences in patterns of germline mutation between mice and humans

(2019) Sarah J. Lindsay et al.   Nature Communications

Universal Patterns of Selection in Cancer and Somatic Tissues

(2018) Iñigo Martincorena et al.   CELL

Detecting Somatic Mutations in Normal Cells

(2018) Yanmei Dou et al.   TRENDS IN GENETICS

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

(2018) Po-Ru Loh et al.   NATURE

Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

(2018) Geoffrey J. Maher et al.   GENOME RESEARCH

The UCSC Genome Browser database: 2019 update

(2018) Maximilian Haeussler et al.   NUCLEIC ACIDS RESEARCH

COSMIC: the Catalogue Of Somatic Mutations In Cancer

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

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

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

(2017) Young Seok Ju et al.   NATURE

Principles of early human development and germ cell program from conserved model systems

(2017) Toshihiro Kobayashi et al.   NATURE

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

(2017) Tao Long et al.   NATURE GENETICS

Settling the score: variant prioritization and Mendelian disease

(2017) Karen Eilbeck et al.   NATURE REVIEWS GENETICS

DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification

(2017) Lixin Chen et al.   SCIENCE

Spatial constraints govern competition of mutant clones in human epidermis

(2017) M. D. Lynch et al.   Nature Communications

LoLoPicker: detecting low allelic-fraction variants from low-quality cancer samples

(2017) Jian Carrot-Zhang et al.   Oncotarget

A Critical Evaluation of the PAXgene Tissue Fixation System

(2016) William Mathieson et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Echoes of the embryo: using the developmental biology toolkit to study cancer

(2016) Nicole M. Aiello et al.   Disease Models & Mechanisms

Self-organization of the in vitro attached human embryo

(2016) Alessia Deglincerti et al.   NATURE

Mosaicism in health and disease — clones picking up speed

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

denovo-db: a compendium of humande novovariants

(2016) Tychele N. Turner et al.   NUCLEIC ACIDS RESEARCH

Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults

(2016) Andrew L. Young et al.   Nature Communications

The Contribution of Mosaic Variants to Autism Spectrum Disorder

(2016) Donald Freed et al.   PLoS Genetics

Surgical Specimens of Colorectal Cancer Fixed with PAXgene Tissue System Preserve High-Quality RNA

(2015) Keisuke Hara et al.   BIOPRESERVATION AND BIOBANKING

Robust In Vitro Induction of Human Germ Cell Fate from Pluripotent Stem Cells

(2015) Kotaro Sasaki et al.   Cell Stem Cell

Cell fate commitment during mammalian sex determination

(2015) Yi-Tzu Lin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Fitting Linear Mixed-Effects Models Usinglme4

(2015) Douglas Bates et al.   Journal of Statistical Software

The UK10K project identifies rare variants in health and disease

(2015)   NATURE

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

The human transcriptome across tissues and individuals

(2015) M. Mele et al.   SCIENCE

Somatic mutation in single human neurons tracks developmental and transcriptional history

(2015) M. A. Lodato et al.   SCIENCE

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

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

(2015) I. Martincorena et al.   SCIENCE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

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Systematic analysis of somatic mutations impacting gene expression in 12 tumour types

(2015) Jiarui Ding et al.   Nature Communications

Surgical Specimens of Colorectal Cancer Fixed with PAXgene Tissue System Preserve High-Quality RNA

(2015) Keisuke Hara et al.   Biopreservation and Biobanking

The Pivotal Regulatory Landscape of RNA Modifications

(2014) Sheng Li et al.   Annual Review of Genomics and Human Genetics

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia

(2014) Terrence N. Wong et al.   NATURE

Genome sequencing of normal cells reveals developmental lineages and mutational processes

(2014) Sam Behjati et al.   NATURE

Gene-gene and gene-environment interactions detected by transcriptome sequence analysis in twins

(2014) Alfonso Buil et al.   NATURE GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher 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

High-Resolution Genomic Analysis of Human Mitochondrial RNA Sequence Variation

(2014) A. Hodgkinson et al.   SCIENCE

A-to-I RNA editing occurs at over a hundred million genomic sites, located in a majority of human genes

(2013) L. Bazak et al.   GENOME RESEARCH

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Systematic evaluation of spliced alignment programs for RNA-seq data

(2013) Pär G Engström et al.   NATURE METHODS

Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation

(2013) Maura Costello et al.   NUCLEIC ACIDS RESEARCH

RADAR: a rigorously annotated database of A-to-I RNA editing

(2013) Gokul Ramaswami et al.   NUCLEIC ACIDS RESEARCH

LifeMap Discovery™: The Embryonic Development, Stem Cells, and Regenerative Medicine Research Portal

(2013) Ron Edgar et al.   PLoS One

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

(2012) Anne Goriely et al.   AMERICAN JOURNAL OF HUMAN GENETICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell

(2012) C. Zong et al.   SCIENCE

Development of human minor salivary glands: expression of mucins according to stage of morphogenesis

(2011) Tathyane H. N. Teshima et al.   JOURNAL OF ANATOMY

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

Highly variable recessive lethal or nearly lethal mutation rates during germ-line development of male Drosophila melanogaster

(2011) J.-J. Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functions and Regulation of RNA Editing by ADAR Deaminases

(2010) Kazuko Nishikura   Annual Review of Biochemistry

The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate

(2010) Patrick S. Ward et al.   CANCER CELL

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Oncogenically active MYD88 mutations in human lymphoma

(2010) Vu N. Ngo et al.   NATURE

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

(2009) S. A. Frank   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Population Genetics of dN/dS

(2008) Sergey Kryazhimskiy et al.   PLoS Genetics