Copy-number variation and association studies of human disease

By Steven A. McCarroll, David Altshuler. Nature Genetics, 2007

652 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/acbe851bbcc7288f59784d9878407173f1edffdf

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Citations in the corpus

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs (2008, methodology): “In addition, methods for copy number analysis have not previously separated the ideas of genotyping known copy number polymorphisms (CNPs) from discovery of rare (and thus previously unobserved) copy number variants (CNVs”
Finding the Genomic Basis of Local Adaptation: Pitfalls, Practical Solutions, and Future Directions (2016, neutral): “Accurate ascertainment of structural variants among individuals is a major challenge (McCarroll and Altshuler 2007).”
Rare and Common Variants: Twenty arguments (2011, background): “Copy number variants (CNVs) are either hemizygous deletions or local duplications that result in three or even four copies of a locu”
High-resolution mapping of copy-number alterations with massively parallel sequencing (2008, background): “Germline copy-number variants can be used for phenotypic mapping in genome-wide association studies and have been linked to various disease”
Integrated detection and population-genetic analysis of SNPs and copy number variation (2008, neutral): “However, the ability to assess copy number variation in disease has been limited by the lack of techniques for accurately measuring the copy number level of each CNV in each individual, and the lack of enabling basic knowledge about the precise locations and allele frequencies of most of the copy nu”
Computational methods for discovering structural variation with next-generation sequencing (2009, background): “has had broad ramifications for several areas of biology, including association studie”
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007, background): “…studies have reported the presence of copy number variation in humans, suggesting that CNVs may account for a significant proportion of human phenotypic variation, including disease susceptibility (Feuk et al. 2006; Freeman et al. 2006; Eichler et al. 2007; McCarroll and Altshuler 2007).”