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The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not… Expand
Genetic Evidence for High-Altitude Adaptation in Tibet
No Genetic Vertigo Peoples living in high altitudes have adapted to their situation (see the Perspective by Storz). To identify gene regions that might have contributed to high-altitude adaptation in… Expand
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Runs in the Family The power to detect mutations involved in disease by genome sequencing is enhanced when combined with the ability to discover specific mutations that may have arisen between… Expand
Genetic traces of ancient demography.
- H. Harpending, M. Batzer, M. Gurven, L. Jorde, A. Rogers, S. Sherry
- Medicine, Biology
- Proceedings of the National Academy of Sciences…
- 17 February 1998
Patterns of gene differences among humans contain information about the demographic history of our species. Haploid loci like mitochondrial DNA and the nonrecombining part of the Y chromosome show a… Expand
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
- R. Toydemir, A. Rutherford, F. G. Whitby, L. Jorde, J. Carey, M. Bamshad
- Medicine, Biology
- Nature Genetics
- 16 April 2006
The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon… Expand
Signatures of population expansion in microsatellite repeat data.
- M. Kimmel, R. Chakraborty, J. P. King, M. Bamshad, W. Watkins, L. Jorde
- Biology, Medicine
- 1 April 1998
To examine the signature of population expansion on genetic variability at microsatellite loci, we consider a population that evolves according to the time-continuous Moran model, with growing… Expand
Genetic evidence on the origins of Indian caste populations.
The origins and affinities of the approximately 1 billion people living on the subcontinent of India have long been contested. This is owing, in part, to the many different waves of immigrants that… Expand
Genetic variation, classification and 'race'
New genetic data has enabled scientists to re-examine the relationship between human genetic variation and 'race'. We review the results of genetic analyses that show that human genetic variation is… Expand
A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans
As a consequence of the accumulation of insertion events over evolutionary time, mobile elements now comprise nearly half of the human genome. The Alu, L1, and SVA mobile element families are still… Expand
High polymorphism at the human melanocortin 1 receptor locus.
Variation in human skin/hair pigmentation is due to varied amounts of eumelanin (brown/black melanins) and phaeomelanin (red/yellow melanins) produced by the melanocytes. The melanocortin 1 receptor… Expand