• Publications
  • Influence
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 notExpand
  • 625
  • 61
  • PDF
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 inExpand
  • 746
  • 57
  • PDF
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
  • J. Roach, Gustavo Glusman, +12 authors D. Galas
  • Biology, Medicine
  • Science
  • 30 April 2010
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 betweenExpand
  • 954
  • 54
  • PDF
Genetic traces of ancient demography.
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 aExpand
  • 632
  • 31
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
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-SheldonExpand
  • 202
  • 30
Signatures of population expansion in microsatellite repeat data.
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 growingExpand
  • 226
  • 28
  • PDF
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 thatExpand
  • 371
  • 27
  • PDF
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 isExpand
  • 493
  • 26
  • PDF
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 stillExpand
  • 265
  • 26
  • PDF
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 receptorExpand
  • 264
  • 25
  • PDF