Copy number variation in human health, disease, and evolution

F Zhang, W Gu, ME Hurles… - Annual review of …, 2009 - annualreviews.org
Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs
are being identified with various genome analysis platforms, including array comparative …

Copy number variation: new insights in genome diversity

JL Freeman, GH Perry, L Feuk, R Redon… - Genome …, 2006 - genome.cshlp.org
DNA copy number variation has long been associated with specific chromosomal
rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not …

Copy number variants, diseases and gene expression

CN Henrichsen, E Chaignat… - Human molecular …, 2009 - academic.oup.com
Copy number variation (CNV) has recently gained considerable interest as a source of
genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has …

Human copy number variation and complex genetic disease

S Girirajan, CD Campbell… - Annual review of genetics, 2011 - annualreviews.org
Copy number variants (CNVs) play an important role in human disease and population
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …

[HTML][HTML] Implications of gene copy-number variation in health and diseases

SH Almal, H Padh - Journal of human genetics, 2012 - nature.com
Inter-individual genomic variations have recently become evident with advances in
sequencing techniques and genome-wide array comparative genomic hybridization. Among …

Human genes involved in copy number variation: mechanisms of origin, functional effects and implications for disease

AJ De Smith, RG Walters, P Froguel… - … and genome research, 2009 - karger.com
Copy number variants (CNVs) overlap over 7000 genes, many of which are pivotal in
biological pathways. The implications of this are profound, with consequences for …

The clinical context of copy number variation in the human genome

C Lee, SW Scherer - Expert reviews in molecular medicine, 2010 - cambridge.org
During the past five years, copy number variation (CNV) has emerged as a highly prevalent
form of genomic variation, bridging the interval between long-recognised microscopic …

Current analysis platforms and methods for detecting copy number variation

W Li, M Olivier - Physiological genomics, 2013 - journals.physiology.org
Copy number variation (CNV), generated through duplication or deletion events that affect
one or more loci, is widespread in the human genomes and is often associated with …

A copy number variation map of the human genome

M Zarrei, JR MacDonald, D Merico… - Nature reviews …, 2015 - nature.com
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Extending genome-wide association studies to copy-number variation

SA McCarroll - Human molecular genetics, 2008 - academic.oup.com
Appreciating the contribution of human genome copy-number variation (CNV) to clinical
phenotypes is one of the compelling genetics challenges of the coming years. It is …