Carl S. Kashuk

A second generation human haplotype map of over 3.1 million SNPs (2007)

Frazer, Kelly A., Ballinger, Dennis G., Cox, David R., Hinds, David A., Stuve, Laura L., Gibbs, Richard A., ...

We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and...

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007)

Adrian Gherman, Peter E. Chen, Tanya M. Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S. Kashuk, ...

The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When...

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007)

Adrian Gherman, Peter E. Chen, Tanya Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S Kashuk, ...

The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance between selective advantage, selective disadvantage and genetic drift. When...

Phenotype–genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence

Kashuk, Carl S., Stone, Eric A., Grice, Elizabeth A., Portnoy, Matthew E., Green, Eric D., Sidow, Arend, ...

The ability to discriminate between deleterious and neutral amino acid substitutions in the genes of patients remains a significant challenge in human genetics. The increasing availability of genomic...

Phenotype–genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence

Kashuk, Carl S., Stone, Eric A., Grice, Elizabeth A., Portnoy, Matthew E., Green, Eric D., Sidow, Arend, ...

The ability to discriminate between deleterious and neutral amino acid substitutions in the genes of patients remains a significant challenge in human genetics. The increasing availability of genomic...

Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture

Gherman, Adrian, Chen, Peter E, Teslovich, Tanya M, Stankiewicz, Pawel, Withers, Marjorie, Kashuk, Carl S, ...

The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When...