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Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
The findings suggest that most human variation is rare, not shared between populations, and that rare variants are likely to play a role in human health, and show that large sample sizes will be required to associate rare variants with complex traits. Expand
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.
A unified approach for testing the association between rare variants and phenotypes in sequencing association studies is proposed and it is shown that the unified test corresponds to the optimal test in an extended family of SKAT tests, which is referred to as SKAT-O. Expand
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
It is demonstrated that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans. Expand
Targeted capture and massively parallel sequencing of 12 human exomes
Genome-wide association studies suggest that common genetic variants explain only a modest fraction of heritable risk for common diseases, raising the question of whether rare variants account for aExpand
The Influence of CCL3L1 Gene-Containing Segmental Duplications on HIV-1/AIDS Susceptibility
It is shown that there are significant interindividual and interpopulation differences in the copy number of a segmental duplication encompassing the gene encoding CCL3L1, a potent human immunodeficiency virus–1 (HIV-1)–suppressive chemokine and ligand for the HIV coreceptor CCR5. Expand
Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants
The results better delimit the historical details of human protein-coding variation, show the profound effect of recent human history on the burden of deleterious SNVs segregating in contemporary populations, and provide important practical information that can be used to prioritize variants in disease-gene discovery. Expand
Exome sequencing as a tool for Mendelian disease gene discovery
Experimental and analytical approaches relating to exome sequencing have established a rich framework for discovering the genes underlying unsolved Mendelian disorders and set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling. Expand
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four and demonstrate the value of complete genome sequencing in families. Expand
Exome sequencing identifies the cause of a Mendelian disorder
Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits. Expand
Deep common ancestry of Indian and western-Eurasian mitochondrial DNA lineages
An extensive deep late Pleistocene genetic link between contemporary Europeans and Indians is found, provided by the mtDNA haplogroup U, which encompasses roughly a fifth of mtDNA lineages of both populations. Expand