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Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
A Deep Look Into Our Genes Recent debates have focused on the degree of genetic variation and its impact upon health at the genomic level in humans (see the Perspective by Casals and Bertranpetit).Expand
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RFMix: a discriminative modeling approach for rapid and robust local-ancestry inference.
Local-ancestry inference is an important step in the genetic analysis of fully sequenced human genomes. Current methods can only detect continental-level ancestry (i.e., European versus AfricanExpand
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Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.
Polygenic risk scores have shown great promise in predicting complex disease risk and will become more accurate as training sample sizes increase. The standard approach for calculating risk scoresExpand
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Textpresso: An Ontology-Based Information Retrieval and Extraction System for Biological Literature
We have developed Textpresso, a new text-mining system for scientific literature whose capabilities go far beyond those of a simple keyword search engine. Textpresso's two major elements are aExpand
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Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.
The vast majority of genome-wide association studies (GWASs) are performed in Europeans, and their transferability to other populations is dependent on many factors (e.g., linkage disequilibrium,Expand
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The genetics of Mexico recapitulates Native American substructure and affects biomedical traits
The population structure of Native Mexicans The genetics of indigenous Mexicans exhibit substantial geographical structure, some as divergent from each other as are existing populations of EuropeansExpand
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Common SNPs in HMGCR in Micronesians and Whites Associated With LDL-Cholesterol Levels Affect Alternative Splicing of Exon13
Background—Variation in LDL-cholesterol (LDL-C) among individuals is a complex genetic trait involving multiple genes and gene–environment interactions. Methods and Results—In a genome-wideExpand
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Genome-Wide Association Studies in an Isolated Founder Population from the Pacific Island of Kosrae
It has been argued that the limited genetic diversity and reduced allelic heterogeneity observed in isolated founder populations facilitates discovery of loci contributing to both Mendelian andExpand
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The Great Migration and African-American Genomic Diversity
We present a comprehensive assessment of genomic diversity in the African-American population by studying three genotyped cohorts comprising 3,726 African-Americans from across the United States thatExpand
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ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy
Recent advances in the identification of susceptibility genes and environmental exposures provide broad support for a post-infectious autoimmune basis for narcolepsy/hypocretin (orexin) deficiency.Expand
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