Pardis C Sabeti

Publications216
h-index65
Citations28,554
Highly Influential Citations1,811
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A second generation human haplotype map of over 3.1 million SNPs
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
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Detecting Novel Associations in Large Data Sets
TLDR
We present a measure of dependence for two-variable relationships: the maximal information coefficient (MIC). Expand
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Detecting recent positive selection in the human genome from haplotype structure
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
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Integrating common and rare genetic variation in diverse human populations
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
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Genome-wide detection and characterization of positive selection in human populations
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
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Genetic signatures of strong recent positive selection at the lactase gene.
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
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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 map… Expand
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Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak
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
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Nucleic acid detection with CRISPR-Cas13a/C2c2
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
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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
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