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- Publications
- Influence
A second generation human haplotype map of over 3.1 million SNPs
- K. Frazer, D. Ballinger, +234 authors J. Stewart
- Biology, Medicine
- Nature
- 18 October 2007
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and… Expand
Detecting Novel Associations in Large Data Sets
- David N. Reshef, Yakir A Reshef, +6 authors Pardis C Sabeti
- Computer Science, Medicine
- Science
- 1 December 2011
TLDR
Detecting recent positive selection in the human genome from haplotype structure
- Pardis C Sabeti, David E. Reich, +14 authors E. Lander
- Biology, Medicine
- Nature
- 24 October 2002
The ability to detect recent natural selection in the human population would have profound implications for the study of human history and for medicine. Here, we introduce a framework for detecting… Expand
Integrating common and rare genetic variation in diverse human populations
- D. Altshuler, R. Gibbs, +66 authors J. Mcewen
- Biology, Medicine
- Nature
- 2 September 2010
Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully… Expand
Genome-wide detection and characterization of positive selection in human populations
- Pardis C Sabeti, P. Varilly, +9 authors E. Lander
- Biology, Medicine
- Nature
- 18 October 2007
With the advent of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms… Expand
Genetic signatures of strong recent positive selection at the lactase gene.
- Todd Bersaglieri, Pardis C Sabeti, +6 authors J. Hirschhorn
- Biology, Medicine
- American journal of human genetics
- 1 June 2004
In most human populations, the ability to digest lactose contained in milk usually disappears in childhood, but in European-derived populations, lactase activity frequently persists into adulthood… Expand
Linkage disequilibrium in the human genome
- David E. Reich, M. Cargill, +8 authors E. Lander
- Biology, Medicine
- Nature
- 10 May 2001
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 map… Expand
Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak
- Stephen K. Gire, A. Goba, +55 authors Pardis C Sabeti
- Biology, Medicine
- Science
- 12 September 2014
In its largest outbreak, Ebola virus disease is spreading through Guinea, Liberia, Sierra Leone, and Nigeria. We sequenced 99 Ebola virus genomes from 78 patients in Sierra Leone to ~2000× coverage.… Expand
Nucleic acid detection with CRISPR-Cas13a/C2c2
- J. Gootenberg, O. Abudayyeh, +16 authors Feng Zhang
- Biology, Medicine
- Science
- 1 April 2017
Sensitive and specific CRISPR diagnostics Methods are needed that can easily detect nucleic acids that signal the presence of pathogens, even at very low levels. Gootenberg et al. combined the… Expand
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC
The proteins encoded by the classical HLA class I and class II genes in the major histocompatibility complex (MHC) are highly polymorphic and are essential in self versus non-self immune recognition.… Expand