A high-resolution survey of deletion polymorphism in the human genome

By D. Conrad, T. Daniel Andrews, N. Carter, Matthew E. Hurles, J. K. Pritchard. Nature Genetics, 2006

717 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Plant Science

View Paper: https://www.semanticscholar.org/paper/39d66cd565708defe18de5cc805ecadbec44e681

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In Genetics

1. Gonçalo R. Abecasis
2. Cristen J. Willer
3. Yun Li
4. Serena Sanna
5. David J. Balding
6. Heng Li
7. David Altshuler
8. Stephen W. Scherer

In Molecular Biology

1. Cristen J. Willer
2. Yun Li
3. David J. Balding
4. Serena Sanna
5. Brian Walenz
6. Chris Tyler-Smith
7. Ira M. Hall
8. Paul Medvedev

In Plant Science

1. Ira M. Hall
2. Paul Medvedev
3. David Altshuler
4. Brian Walenz
5. Stephen W. Scherer
6. David J. Balding
7. Steven A. McCarroll
8. Matthew E. Hurles

Citations in the corpus

• Genotype Imputation (2009, background): “F or p er so na l u se o nl y. Table 2 Recommended choices of HapMap reference panel haplotypes for imputing genotypes in Human Genome Diversity Panel different samples These reference panel haplotypes. . . . . .are best for imputing genotypes in these Human Genome Diversity Panel samples CEU Europe”
• 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”
• Copy number variation: new insights in genome diversity. (2006, methodology): “…be effectively assayed by SNP genotyping (Hinds et al. 2006; McCarroll et al. 2006; Newman et al. 2006), other CNVs may have recurred multiple times independently (Conrad et al. 2006; Perry et al. 2006; Repping et al. 2006) and may not be as readily detectable through SNP-based association studies.”
• 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).”
• Natural genetic variation caused by small insertions and deletions in the human genome. (2011, methodology): “…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 small human INDELs…”
• A tutorial on statistical methods for population association studies (2006, background): “However, the possibility that a deviation from HWE is due to a deletion polymorphis”