1. Diversity of human copy number variation and multicopy genes
- Author
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Javier Herrero, Harold Swerdlow, Michael Eberle, Alexej Abyzov, Kristian Cibulskis, Rajini Haraksingh, David Altshuler, Can Alkan, Laura Clarke, Ryan Mills, Richa Agarwala, David N. Cooper, Francesca Antonacci, Shankar Balasubramanian, Daniel MacArthur, Jesus Christ Aguinaga, Stephen Sherry, Jay Shendure, Ralf Sudbrak, Philip Rosenstiel, Eugene Kulesha, Klaudia Walter, Simon Myers, Jonathan Sebat, Ken Chen, Eric Stone, Peter Sudmant, Stephen Schaffner, Rajesh Radhakrishnan, MICHAEL MCLELLAN, William McLaren, Angie Hinrichs, Vadim Zalunin, Afidalina Tumian, Andrew Clark, Rasko Leinonen, Jacob Kitzman, Thomas Keane, Stephen Keenan, and Andreas Dahl
- Subjects
Male ,DNA Copy Number Variations ,Genotype ,Population ,Copy number analysis ,Gene Conversion ,Gene Dosage ,Biology ,Polymorphism, Single Nucleotide ,Article ,Evolution, Molecular ,Gene Frequency ,Genes, Duplicate ,Gene Duplication ,Gene family ,Humans ,Gene conversion ,Copy-number variation ,education ,Gene ,Genetics ,education.field_of_study ,Genetic diversity ,Multidisciplinary ,Genome, Human ,Racial Groups ,Chromosome Mapping ,Genetic Variation ,Genomics ,Sequence Analysis, DNA ,Haplotypes ,Human genome ,Female ,Databases, Nucleic Acid - Abstract
Evolution, Gene Number, and Disease Slight variations in the numbers of copies of genes influence human disease and other characters. Variants can be hard to detect when they lie in heavily duplicated and widely similar regions of sequence known as “dark matter.” Sudmant et al. (p. 641 ) have methods to tease apart the duplicated regions to reveal singly unique nucleotide identifiers. These have turned out to be among the most variable seen in different human population groups—most notably among genes for neurodevelopment and neurological diseases. Such polymorphisms can be genotyped with specificity and may help us understand how variation in copy number may affect human evolution and disease.
- Published
- 2010