Single-cell paired-end genome sequencing reveals structural variation per cell cycle

Massively Parallel Sequencing for Chromosomal Abnormality Testing in Trophectoderm Cells of Human Blastocysts1

(2013) XuYang Yin et al.   BIOLOGY OF REPRODUCTION

Copynumber: Efficient algorithms for single- and multi-track copy number segmentation

(2013) Gro Nilsen et al.   BMC GENOMICS

Evaluation of targeted next-generation sequencing–based preimplantation genetic diagnosis of monogenic disease

(2013) Nathan R. Treff et al.   FERTILITY AND STERILITY

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

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

Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations

(2012) Tobias Rausch et al.   CELL

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

The Life History of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

(2012) Li Ding et al.   NATURE

DNA template strand sequencing of single-cells maps genomic rearrangements at high resolution

(2012) Ester Falconer et al.   NATURE METHODS

Microarray analysis of copy number variation in single cells

(2012) Peter Konings et al.   Nature Protocols

Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays

(2012) Weimin Bi et al.   PRENATAL DIAGNOSIS

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

(2012) C. Zong et al.   SCIENCE

Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing

(2012) S. Lu et al.   SCIENCE

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements

(2011) T. Voet et al.   CYTOGENETIC AND GENOME RESEARCH

Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos

(2011) Thierry Voet et al.   HUMAN MUTATION

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization

(2011) E. Vanneste et al.   HUMAN REPRODUCTION

First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis

(2011) S. Alfarawati et al.   HUMAN REPRODUCTION

PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization

(2011) F. Fiorentino et al.   HUMAN REPRODUCTION

High-resolution analyses of copy number changes in disseminated tumor cells of patients with breast cancer

(2011) Randi R. Mathiesen et al.   INTERNATIONAL JOURNAL OF CANCER

Tumour evolution inferred by single-cell sequencing

(2011) Nicholas Navin et al.   NATURE

Direct, genome-wide assessment of DNA mutations in single cells

(2011) Michael Gundry et al.   NUCLEIC ACIDS RESEARCH

Exploring the Genomes of Cancer Cells: Progress and Promise

(2011) M. R. Stratton   SCIENCE

Future medical applications of single-cell sequencing in cancer

(2011) Nicholas Navin et al.   Genome Medicine

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol

(2010) D.S. Johnson et al.   HUMAN REPRODUCTION

Proliferation of aneuploid human cells is limited by a p53-dependent mechanism

(2010) Sarah L. Thompson et al.   JOURNAL OF CELL BIOLOGY

Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses

(2010) Nathan R. Treff et al.   MOLECULAR HUMAN REPRODUCTION

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

CNV-seq, a new method to detect copy number variation using high-throughput sequencing

(2009) Chao Xie et al.   BMC BIOINFORMATICS

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

(2009) E. Vanneste et al.   HUMAN REPRODUCTION

Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes

(2009) A. H. Handyside et al.   JOURNAL OF MEDICAL GENETICS

Complex landscapes of somatic rearrangement in human breast cancer genomes

(2009) Philip J. Stephens et al.   NATURE

The cancer genome

(2009) Michael R. Stratton et al.   NATURE

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

Identification of small gains and losses in single cells after whole genome amplification on tiling oligo arrays

(2009) Jochen B. Geigl et al.   NUCLEIC ACIDS RESEARCH

A large genome center's improvements to the Illumina sequencing system

(2008) Michael A Quail et al.   NATURE METHODS

Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing

(2008) P. J. Campbell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA