Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort-Reference-Cited by-同舟云学术

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Data-driven approach to detect common copy-number variations and frequency profiles in a population-based Korean cohort

Published:2011-07-06 Issue:11 Volume:19 Page:1167-1172
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Moon Sanghoon,Kim Young Jin,Hong Chang Bum,Kim Dong-Joon,Lee Jong-Young,Kim Bong-Jo

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2011103.pdf

Reference38 articles.

1. Freeman JL, Perry GH, Feuk L et al: Copy number variation: new insights in genome diversity. Genome Res 2006; 16: 949–961.

2. Choy KW, Setlur SR, Lee C et al: The impact of human copy number variation on a new era of genetic testing. BJOG 2010; 117: 391–398.

3. McCarroll SA, Kuruvilla FG, Korn JM et al: Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008; 40: 1166–1174.

4. Redon R, Ishikawa S, Fitch KR et al: Global variation in copy number in the human genome. Nature 2006; 444: 444–454.

5. Kidd JM, Cooper GM, Donahue WF et al: Mapping and sequencing of structural variation from eight human genomes. Nature 2008; 453: 56–64.

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2. Combinatorial approach to estimate copy number genotype using whole-exome sequencing data;Genomics;2015-03

3. Compilation of copy number variants identified in phenotypically normal and parous Japanese women;Journal of Human Genetics;2014-05-01

4. The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population;European Journal of Human Genetics;2013-04-17

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