Accurate and sensitive single-cell-level detection of copy number variations by micro-channel multiple displacement amplification (μcMDA)

The impact of structural variation on human gene expression

(2017) Colby Chiang et al.   NATURE GENETICS

Whole-genome single-cell copy number profiling from formalin-fixed paraffin-embedded samples

(2017) Luciano G Martelotto et al.   NATURE MEDICINE

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

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

Single-cell whole-genome analyses by Linear Amplification via Transposon Insertion (LIANTI)

(2017) Chongyi Chen et al.   SCIENCE

Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast

(2017) Daniel C. Jeffares et al.   Nature Communications

Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations

(2017) Jiang Chang et al.   Nature Communications

Dosage sensitivity is a major determinant of human copy number variant pathogenicity

(2017) Alan M. Rice et al.   Nature Communications

The genomic landscape of pediatric myelodysplastic syndromes

(2017) Jason R. Schwartz et al.   Nature Communications

Spinning micropipette liquid emulsion generator for single cell whole genome amplification

(2016) Zitian Chen et al.   LAB ON A CHIP

Single-cell analysis at the threshold

(2016) Xi Chen et al.   NATURE BIOTECHNOLOGY

Evolution of the immune system influences speciation rates in teleost fishes

(2016) Martin Malmstrøm et al.   NATURE GENETICS

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

(2016) Douglas M Ruderfer et al.   NATURE GENETICS

Genomic analysis of local variation and recent evolution in Plasmodium vivax

(2016) Richard D Pearson et al.   NATURE GENETICS

Punctuated copy number evolution and clonal stasis in triple-negative breast cancer

(2016) Ruli Gao et al.   NATURE GENETICS

Mosaicism in health and disease — clones picking up speed

(2016) Lars A. Forsberg et al.   NATURE REVIEWS GENETICS

Single-cell genome sequencing: current state of the science

(2016) Charles Gawad et al.   NATURE REVIEWS GENETICS

Genome-wide screening identifies a KCNIP1 copy number variant as a genetic predictor for atrial fibrillation

(2016) Chia-Ti Tsai et al.   Nature Communications

Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications

(2015) Lei Huang et al.   Annual Review of Genomics and Human Genetics

Advances and Applications of Single-Cell Sequencing Technologies

(2015) Yong Wang et al.   MOLECULAR CELL

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

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

(2015) Tyler Garvin et al.   NATURE METHODS

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

Enhanced sequencing coverage with digital droplet multiple displacement amplification

(2015) Angus M. Sidore et al.   NUCLEIC ACIDS RESEARCH

Uniform and accurate single-cell sequencing based on emulsion whole-genome amplification

(2015) Yusi Fu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Global diversity, population stratification, and selection of human copy-number variation

(2015) Peter H. Sudmant et al.   SCIENCE

Calibrating genomic and allelic coverage bias in single-cell sequencing

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

Massively parallel polymerase cloning and genome sequencing of single cells using nanoliter microwells

(2013) Jeff Gole et al.   NATURE BIOTECHNOLOGY

Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients

(2013) X. Ni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tumour evolution inferred by single-cell sequencing

(2011) Nicholas Navin et al.   NATURE

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Sensitive and accurate detection of copy number variants using read depth of coverage

(2009) S. Yoon et al.   GENOME RESEARCH

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Personalized copy number and segmental duplication maps using next-generation sequencing

(2009) Can Alkan et al.   NATURE GENETICS

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS

High-resolution mapping of copy-number alterations with massively parallel sequencing

(2008) Derek Y Chiang et al.   NATURE METHODS