Copy number variation in human health, disease, and evolution
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 …
are being identified with various genome analysis platforms, including array comparative …
Copy number variation: new insights in genome diversity
DNA copy number variation has long been associated with specific chromosomal
rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not …
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 …
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 …
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 …
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
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 …
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 …
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 …
one or more loci, is widespread in the human genomes and is often associated with …
A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
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 …
phenotypes is one of the compelling genetics challenges of the coming years. It is …
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