Common deletion polymorphisms in the human genome

By Steven A. McCarroll, Tracy N. Hadnott, G. Perry, Pardis C Sabeti, M. Zody, J. Barrett, Stephanie Dallaire, Stacey Gabriel, Charles Lee, Mark J. Daly and 2 more. Nature Genetics, 2006

759 citations recorded by the source corpus.

Subfields: Genetics

View Paper: https://www.semanticscholar.org/paper/cc36ac849b8829a4d614aa0c44d03c919f04cabd

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Citations in the corpus

Human genetic variation and its contribution to complex traits (2009, background): “Several studies have demonstrated that common short indels (1–5 bp”
Development of query strategies to identify a histologic lymphoma subtype in a large linked database system. (2006, positive): “Recent studies have demonstrated that large scale copy number variations exist in the human population (Conrad et al. 2006; de Vries et al. 2005; Hinds et al. 2006; Iafrate et al. 2004; McCarroll et al. 2006; Sebat et al. 2004; Tuzun et al. 2005).”
Computational methods for discovering structural variation with next-generation sequencing (2009, background): “By also considering allelic ratios at heterozygous sites, they are able to detect CNV”
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. (2009, background): “2 and a patient with a neurological disorder and speech impairment (Murthy et al. 2007).”
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema (2007, background): “An alternative hypothesis is that certain atopic dermatitis risk alleles of FLG may be in linkage disequilibrium with nearby protective factors, such as copy number variations known to affect the late cornified envelope gene cluster distal to FLG”
An initial map of insertion and deletion (INDEL) variation in the human genome. (2006, result): “Finally, we also compared our INDELs with the 641 large genomic deletions that were identified in regions of the HapMap that had diminished (or absent) SNP genotyping signals (Conrad et al. 2006; McCarroll et al. 2006).”
Natural genetic variation caused by small insertions and deletions in the human genome. (2011, methodology): “Although microarrays have been used widely to genotype SNPs (The International HapMap Consortium 2003, 2005) and relatively large structural variants (Sebat et al. 2004; Conrad et al. 2006, 2010a; Hinds et al. 2006; McCarroll et al. 2006; Mills et al. 2011), microarray-based assays for interrogating”
A Copy Number Variation Morbidity Map of Developmental Delay (2011, neutral): “We analyzed 186,014 autosomal coding exons using 65,704 cassettes (multiple exons are often targeted by the same cassette) excluding exons within known common CNV”
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn’s disease (2008, background): “HapMap SNPs upstream of IRGM showed a pattern of assay failure (multiple SNPs yielding null genotypes in the same 34 samples) that is characteristic of structural polymorphism”
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. (2007, background): “These prevalent CNVs were also reported by several other CNV publications (Sebat et al. 2004; Tuzun et al. 2005; Conrad et al. 2006; McCarroll et al. 2006; Redon et al. 2006).”