Mosaic Copy Number Variation in Human Neurons

Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms

(2013) A. Malhotra et al.   GENOME RESEARCH

Physiologic brain activity causes DNA double-strand breaks in neurons, with exacerbation by amyloid-β

(2013) Elsa Suberbielle et al.   NATURE NEUROSCIENCE

The genomically mosaic brain: Aneuploidy and more in neural diversity and disease

(2013) Diane M. Bushman et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Binary Interval Search: a scalable algorithm for counting interval intersections

(2012) Ryan M. Layer et al.   BIOINFORMATICS

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 Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor

(2012) Xun Xu et al.   CELL

A genome-wide analysis of common fragile sites: What features determine chromosomal instability in the human genome?

(2012) Arkarachai Fungtammasan et al.   GENOME RESEARCH

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

(2012) Alexej Abyzov et al.   NATURE

Genome-wide copy number analysis of single cells

(2012) Timour Baslan et al.   Nature Protocols

The UCSC Genome Browser database: extensions and updates 2013

(2012) Laurence R. Meyer et al.   NUCLEIC ACIDS RESEARCH

Extensive genetic variation in somatic human tissues

(2012) M. O'Huallachain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Extrachromosomal MicroDNAs and Chromosomal Microdeletions in Normal Tissues

(2012) Y. Shibata et al.   SCIENCE

Single-cell sequencing analysis characterizes common and cell-lineage-specific mutations in a muscle-invasive bladder cancer

(2012) Yingrui Li et al.   GigaScience

Genome Sequencing of Mouse Induced Pluripotent Stem Cells Reveals Retroelement Stability and Infrequent DNA Rearrangement during Reprogramming

(2011) Aaron R. Quinlan et al.   Cell Stem Cell

Dynamic Changes in the Copy Number of Pluripotency and Cell Proliferation Genes in Human ESCs and iPSCs during Reprogramming and Time in Culture

(2011) Louise C. Laurent et al.   Cell Stem Cell

Tumour evolution inferred by single-cell sequencing

(2011) Nicholas Navin et al.   NATURE

Modelling schizophrenia using human induced pluripotent stem cells

(2011) Kristen J. Brennand et al.   NATURE

Somatic retrotransposition alters the genetic landscape of the human brain

(2011) J. Kenneth Baillie et al.   NATURE

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome

(2010) A. R. Quinlan et al.   GENOME RESEARCH

Neuronal DNA content variation (DCV) with regional and individual differences in the human brain

(2010) Jurjen W. Westra et al.   JOURNAL OF COMPARATIVE NEUROLOGY

LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?

(2010) Tatjana Singer et al.   TRENDS IN NEUROSCIENCES

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition

(2010) Andrew Adey et al.   GENOME BIOLOGY

Genomic DNA amplification by the multiple displacement amplification (MDA) method: Figure 1

(2009) Roger S. Lasken   BIOCHEMICAL SOCIETY TRANSACTIONS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Jumping-gene roulette

(2009) Sandra L. Martin   NATURE

L1 retrotransposition in human neural progenitor cells

(2009) Nicole G. Coufal et al.   NATURE

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

(2008) Carl E.G. Bruder et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic mosaicism for copy number variation in differentiated human tissues

(2008) Arkadiusz Piotrowski et al.   HUMAN MUTATION

Impact of whole genome amplification on analysis of copy number variants

(2008) T. J. Pugh et al.   NUCLEIC ACIDS RESEARCH