• 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
  • 693
  • 69
  • PDF
Ancient human genomes suggest three ancestral populations for present-day Europeans
We sequenced genomes from a ∼7,000 year old early farmer from Stuttgart in Germany, an ∼8,000 year old hunter-gatherer from Luxembourg, and seven ∼8,000 year old hunter-gatherers from southernExpand
  • 666
  • 55
A promoter-level mammalian expression atlas
TLDR
Promoter-based expression analysis reveals key transcription factors defining cell states and links them to binding-site motifs in mammalian cell-type-specific promoters. Expand
  • 1,380
  • 46
  • PDF
Evidence for variable selective pressures at MC1R.
It is widely assumed that genes that influence variation in skin and hair pigmentation are under selection. To date, the melanocortin 1 receptor (MC1R) is the only gene identified that explainsExpand
  • 344
  • 34
  • PDF
Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome, as revealed by direct observation in father/son pairs.
A number of applications of analysis of human Y-chromosome microsatellite loci to human evolution and forensic science require reliable estimates of the mutation rate and knowledge of the mutationalExpand
  • 385
  • 33
  • PDF
Correlation between Genetic and Geographic Structure in Europe
Understanding the genetic structure of the European population is important, not only from a historical perspective, but also for the appropriate design and interpretation of genetic epidemiologicalExpand
  • 455
  • 27
  • PDF
Genes and languages in Europe: an analysis of mitochondrial lineages.
When mitochondrial DNA sequence variation is analyzed from a sample of 637 individuals in 14 European populations, most populations show little differentiation with respect to each other. However,Expand
  • 249
  • 26
  • PDF
mtDNA analysis of Nile River Valley populations: A genetic corridor or a barrier to migration?
To assess the extent to which the Nile River Valley has been a corridor for human migrations between Egypt and sub-Saharan Africa, we analyzed mtDNA variation in 224 individuals from variousExpand
  • 216
  • 23
  • PDF
Alu insertion polymorphisms in NW Africa and the Iberian Peninsula: evidence for a strong genetic boundary through the Gibraltar Straits
Abstract. An analysis of 11 Alu insertion polymorphisms (ACE, TPA25, PV92, APO, FXIIIB, D1, A25, B65, HS2.43, HS3.23, and HS4.65) has been performed in several NW African (Northern, Western, andExpand
  • 149
  • 22
  • PDF
CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure
Background and objective CYP2D6, a member of the cytochrome P450 superfamily, is responsible for the metabolism of about 25% of the commonly prescribed drugs. Its activity ranges from completeExpand
  • 346
  • 21
  • PDF
...
1
2
3
4
5
...