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

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

(2017) Elaine T Lim et al.   NATURE NEUROSCIENCE

PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation

(2017) Maxwell A Sherman et al.   NUCLEIC ACIDS RESEARCH

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

(2017) Taejeong Bae et al.   SCIENCE

The Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by Cloning

(2016) Jennifer L. Hazen et al.   NEURON

Genome-wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing

(2016) Margaret L. Hoang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clock-like mutational processes in human somatic cells

(2015) Ludmil B Alexandrov et al.   NATURE GENETICS

Cell Lineage Analysis in Human Brain Using Endogenous Retroelements

(2015) Gilad D. Evrony et al.   NEURON

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

Multiple evidence strands suggest that there may be as few as 19 000 human protein-coding genes

(2014) Iakes Ezkurdia et al.   HUMAN MOLECULAR GENETICS

Understanding nucleotide excision repair and its roles in cancer and ageing

(2014) Jurgen A. Marteijn et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Quantitative Comparison of Single-Cell Whole Genome Amplification Methods

(2014) Charles F. A. de Bourcy et al.   PLoS One

The Hallmarks of Aging

(2013) Carlos López-Otín et al.   CELL

Deciphering Signatures of Mutational Processes Operative in Human Cancer

(2013) Ludmil B. Alexandrov et al.   Cell Reports

Prefrontal cortex cytoarchitecture in normal aging and Alzheimer’s disease: a relationship with IQ

(2012) Susanne J. van Veluw et al.   Brain Structure & Function

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

(2012) Gilad D. Evrony et al.   CELL

Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm

(2012) Yong Hou et al.   CELL

Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm

(2012) Jianbin Wang et al.   CELL

Our fragile intellect. Part I

(2012) Gerald R. Crabtree   TRENDS IN GENETICS

Our fragile intellect. Part II

(2012) Gerald R. Crabtree   TRENDS IN GENETICS

Premature aging and cancer in nucleotide excision repair-disorders

(2011) K. Diderich et al.   DNA REPAIR

A method for detecting genetic toxicity using the RNA synthesis response to DNA damage

(2011) Yoko Morita et al.   JOURNAL OF TOXICOLOGICAL SCIENCES

Decontamination of MDA Reagents for Single Cell Whole Genome Amplification

(2011) Tanja Woyke et al.   PLoS One

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

(2010) A. McKenna et al.   GENOME RESEARCH

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene ontology analysis for RNA-seq: accounting for selection bias

(2010) Matthew D Young et al.   GENOME BIOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The human brain in numbers: a linearly scaled-up primate brain

(2009) Suzana Herculano-Houzel   Frontiers in Human Neuroscience

Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt

(2009) Steffen Durinck et al.   Nature Protocols

Sampling Methods for Wallenius' and Fisher's Noncentral Hypergeometric Distributions

(2008) Agner Fog   COMMUNICATIONS IN STATISTICS-SIMULATION AND COMPUTATION

Transcription induces strand-specific mutations at the 5' end of human genes

(2008) P. Polak et al.   GENOME RESEARCH