Copy number variations and human genetic disease
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Pediatrics, Perinatology, and Child Health
Reference62 articles.
1. Genomic rearrangements and sporadic disease.;Lupski;Nat Genet,2007
2. Properties and rates of germline mutations in humans.;Campbell;Trends Genet,2013
3. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays.;Pinkel;Nat Genet,1998
4. Systematic assessment of copy number variant detection via genome-wide SNP genotyping.;Cooper;Nat Genet,2008
5. Integrated detection and population-genetic analysis of SNPs and copy number variation.;McCarroll;Nat Genet,2008
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