• Publications
  • Influence
The Sequence of the Human Genome
A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DNA sequence wasExpand
  • 8,703
  • 248
Linkage disequilibrium in the human genome
With the availability of a dense genome-wide map of single nucleotide polymorphisms (SNPs), a central issue in human genetics is whether it is now possible to use linkage disequilibrium (LD) to mapExpand
  • 1,677
  • 84
  • PDF
A Scan for Positively Selected Genes in the Genomes of Humans and Chimpanzees
Since the divergence of humans and chimpanzees about 5 million years ago, these species have undergone a remarkable evolution with drastic divergence in anatomy and cognitive abilities. At theExpand
  • 893
  • 52
  • PDF
Natural selection on protein-coding genes in the human genome
Comparisons of DNA polymorphism within species to divergence between species enables the discovery of molecular adaptation in evolutionarily constrained genes as well as the differentiation of weakExpand
  • 758
  • 48
  • PDF
Characterization of single-nucleotide polymorphisms in coding regions of human genes
A major goal in human genetics is to understand the role of common genetic variants in susceptibility to common diseases. This will require characterizing the nature of gene variation in humanExpand
  • 660
  • 47
A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
We performed a multitiered, case-control association study of psoriasis in three independent sample sets of white North American individuals (1,446 cases and 1,432 controls) with 25,215 genecentricExpand
  • 1,033
  • 37
Inferring Nonneutral Evolution from Human-Chimp-Mouse Orthologous Gene Trios
Even though human and chimpanzee gene sequences are nearly 99% identical, sequence comparisons can nevertheless be highly informative in identifying biologically important changes that have occurredExpand
  • 640
  • 35
  • PDF
Characterization of single-nucleotide polymorphisms in coding regions of human genes
  • M. Cargill
  • Medicine, Biology
  • Nature Genetics
  • 1 November 1999
Nature Genet. 22, 231–238 (1999). We inadvertently omitted Nila Shaw from our list of authors. The correct author list follows. Michele Cargill, David Altshuler, James Ireland, Pamela Sklar, KristinExpand
  • 512
  • 34
A Simple Genetic Architecture Underlies Morphological Variation in Dogs
The largest genetic study to date of morphology in domestic dogs identifies genes controlling nearly 100 morphological traits and identifies important trends in phenotypic variation within thisExpand
  • 356
  • 17
  • PDF
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
PURPOSE Multiple-gene sequencing is entering practice, but its clinical value is unknown. We evaluated the performance of a customized germline-DNA sequencing panel for cancer-risk assessment in aExpand
  • 350
  • 14