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

Somatic genomic changes in single Alzheimer’s disease neurons

(2022) Michael B. Miller 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

Neuronal enhancers are hotspots for DNA single-strand break repair

(2021) Wei Wu et al.   NATURE

Somatic mutation landscapes at single-molecule resolution

(2021) Federico Abascal et al.   NATURE

Incorporation of a nucleoside analog maps genome repair sites in postmitotic human neurons

(2021) Dylan A. Reid et al.   SCIENCE

Accurate genomic variant detection in single cells with primary template-directed amplification

(2021) Veronica Gonzalez-Pena et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tobacco smoking and somatic mutations in human bronchial epithelium

(2020) Kenichi Yoshida et al.   NATURE

Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex

(2019) William D. Chronister et al.   Cell Reports

Linked-read analysis identifies mutations in single-cell DNA-sequencing data

(2019) Craig L. Bohrson et al.   NATURE GENETICS

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

(2019) Mia Petljak et al.   CELL

SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events

(2019) Erik N. Bergstrom et al.   BMC GENOMICS

The landscape of somatic mutation in normal colorectal epithelial cells

(2019) Henry Lee-Six et al.   NATURE

Brain cell type–specific enhancer–promoter interactome maps and disease-risk association

(2019) Alexi Nott 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

Somatic mutagenesis in satellite cells associates with human skeletal muscle aging

(2018) Irene Franco et al.   Nature Communications

DNA double-strand breaks as drivers of neural genomic change, function, and disease

(2018) Frederick W. Alt et al.   DNA REPAIR

Somatic mutant clones colonize the human esophagus with age

(2018) Iñigo Martincorena et al.   SCIENCE

Single-cell mutation identification via phylogenetic inference

(2018) Jochen Singer et al.   Nature Communications

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

(2017) Xiao Dong et al.   NATURE METHODS

Building a lineage from single cells: genetic techniques for cell lineage tracking

(2017) Mollie B. Woodworth et al.   NATURE REVIEWS GENETICS

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

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

(2016) Francis Blokzijl et al.   NATURE

Monovar: single-nucleotide variant detection in single cells

(2016) Hamim Zafar et al.   NATURE METHODS

Resolving rates of mutation in the brain using single-neuron genomics

(2016) Gilad D Evrony et al.   eLife

Activity-Induced DNA Breaks Govern the Expression of Neuronal Early-Response Genes

(2015) Ram Madabhushi et al.   CELL

Fitting Linear Mixed-Effects Models Usinglme4

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

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Interactive analysis and assessment of single-cell copy-number variations

(2015) Tyler Garvin et al.   NATURE METHODS

Somatic mutation in single human neurons tracks developmental and transcriptional history

(2015) M. A. Lodato et al.   SCIENCE

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

(2015) I. Martincorena et al.   SCIENCE

Calibrating genomic and allelic coverage bias in single-cell sequencing

(2015) Cheng-Zhong Zhang et al.   Nature Communications

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Mosaic Copy Number Variation in Human Neurons

(2013) M. J. McConnell et al.   SCIENCE

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

(2012) Gilad D. Evrony et al.   CELL

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

(2012) Pablo Cingolani et al.   FLY

Genome-wide copy number analysis of single cells

(2012) Timour Baslan et al.   Nature Protocols