Automated design of paralogue ratio test assays for the accurate and rapid typing of copy number variation

The genomic signature of dog domestication reveals adaptation to a starch-rich diet

(2013) Erik Axelsson et al.   NATURE

Statistical challenges associated with detecting copy number variations with next-generation sequencing

(2012) Shu Mei Teo et al.   BIOINFORMATICS

Correlating Multiallelic Copy Number Polymorphisms with Disease Susceptibility

(2012) Stuart Cantsilieris et al.   HUMAN MUTATION

Association of β-Defensin Copy Number and Psoriasis in Three Cohorts of European Origin

(2012) Philip E. Stuart et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Detection of Copy Number Changes in DNA from Formalin Fixed Paraffin Embedded Tissues Using Paralogue Ratio Tests

(2011) Gerald Saldanha et al.   ANALYTICAL CHEMISTRY

Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders

(2011) Danielle Carpenter et al.   BMC GENOMICS

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Human β-defensin 3 (DEFB103) and its influence on Staphylococcus aureus nasal carriage

(2011) Peder Fode et al.   INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Genome wide association studies (GWAS) and copy number variation (CNV) studies of the major psychoses: What have we learnt?

(2011) Kok Wei Lee et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Determination of Beta-Defensin Genomic Copy Number in Different Populations: A Comparison of Three Methods

(2011) Peder Fode et al.   PLoS One

Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus

(2010) David L Morris et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease

(2010) Marian C. Aldhous et al.   HUMAN MOLECULAR GENETICS

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Copy Number Variation and Transposable Elements Feature in Recent, Ongoing Adaptation at the Cyp6g1 Locus

(2010) Joshua M. Schmidt et al.   PLoS Genetics

Towards a comprehensive structural variation map of an individual human genome

(2010) Andy W Pang et al.   GENOME BIOLOGY

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Comparison of multiplex ligation-dependent probe amplification and real-time PCR accuracy for gene copy number quantification using the β-defensin locus

(2009) Andrea Perne et al.   BIOTECHNIQUES

Substrate Specificity, Inhibitors and Regulation of Human Cytochrome P450 2D6 and Implications in Drug Development

(2009) Shu-Feng Zhou et al.   CURRENT MEDICINAL CHEMISTRY

An integrated approach for measuring copy number variation at theFCGR3(CD16) locus

(2009) Edward J. Hollox et al.   HUMAN MUTATION

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

(2009) Donald F. Conrad et al.   NATURE

Impact of whole genome amplification on analysis of copy number variants

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