SomaMutDB: a database of somatic mutations in normal human tissues

UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin

(2021) Natalie Saini et al.   PLoS Genetics

From DNA damage to mutations: all roads lead to aging

(2021) Jan Vijg   AGEING RESEARCH REVIEWS

Inherent mosaicism and extensive mutation of human placentas

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

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

CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores

(2021) Philipp Rentzsch et al.   Genome Medicine

Twelve years of SAMtools and BCFtools

(2021) Petr Danecek et al.   GigaScience

Somatic mutation landscapes at single-molecule resolution

(2021) Federico Abascal et al.   NATURE

mmsig: a fitting approach to accurately identify somatic mutational signatures in hematological malignancies

(2021) Even H. Rustad et al.   Communications Biology

Tobacco smoking and somatic mutations in human bronchial epithelium

(2020) Kenichi Yoshida et al.   NATURE

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Patterns of somatic structural variation in human cancer genomes

(2020) Yilong Li 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

The mutational landscape of normal human endometrial epithelium

(2020) Luiza Moore et al.   NATURE

Low rates of mutation in clinical grade human pluripotent stem cells under different culture conditions

(2020) Oliver Thompson et al.   Nature Communications

Pathogenic Mechanisms of Somatic Mutation and Genome Mosaicism in Aging

(2020) Jan Vijg et al.   CELL

Somatic Evolution in Non-neoplastic IBD-Affected Colon

(2020) Sigurgeir Olafsson et al.   CELL

Mutation accumulation and developmental lineages in normal and Down syndrome human fetal haematopoiesis

(2020) Karlijn A. L. Hasaart et al.   Scientific Reports

The genomic landscapes of individual melanocytes from human skin

(2020) Jessica Tang 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

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

(2020) Peter Ellis et al.   Nature Protocols

Characterizing Mutational Signatures in Human Cancer Cell Lines Reveals Episodic APOBEC Mutagenesis

(2019) Mia Petljak et al.   CELL

Single-cell whole-genome sequencing reveals the functional landscape of somatic mutations in B lymphocytes across the human lifespan

(2019) Lei Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Somatic mutations and clonal dynamics in healthy and cirrhotic human liver

(2019) Simon F. Brunner et al.   NATURE

Somatic inflammatory gene mutations in human ulcerative colitis epithelium

(2019) Kosaku Nanki et al.   NATURE

Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

(2018) Irene Franco et al.   Nature Communications

Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas

(2018) Theo A. Knijnenburg et al.   Cell Reports

MutationalPatterns: comprehensive genome-wide analysis of mutational processes

(2018) Francis Blokzijl et al.   Genome Medicine

Population dynamics of normal human blood inferred from somatic mutations

(2018) Henry Lee-Six et al.   NATURE

The Human Transcription Factors

(2018) Samuel A. Lambert et al.   CELL

DSMNC: a database of somatic mutations in normal cells

(2018) Xuexia Miao et al.   NUCLEIC ACIDS RESEARCH

GENCODE reference annotation for the human and mouse genomes

(2018) Adam Frankish et al.   NUCLEIC ACIDS RESEARCH

COSMIC: the Catalogue Of Somatic Mutations In Cancer

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

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

(2017) Xiao Dong et al.   NATURE METHODS

Tumour heterogeneity and resistance to cancer therapies

(2017) Ibiayi Dagogo-Jack et al.   Nature Reviews Clinical Oncology

Human Ageing Genomic Resources: new and updated databases

(2017) Robi Tacutu et al.   NUCLEIC ACIDS RESEARCH

iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations

(2017) Erika M. Kwon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

(2016) Francis Blokzijl et al.   NATURE

Mutational History of a Human Cell Lineage from Somatic to Induced Pluripotent Stem Cells

(2016) Foad J. Rouhani et al.   PLoS Genetics

CrossMap: a versatile tool for coordinate conversion between genome assemblies

(2013) Hao Zhao et al.   BIOINFORMATICS

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

International Cancer Genome Consortium Data Portal--a one-stop shop for cancer genomics data

(2011) J. Zhang et al.   Database-The Journal of Biological Databases and Curation

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

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS