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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 fullyExpand
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Integrated detection and population-genetic analysis of SNPs and copy number variation
Dissecting the genetic basis of disease risk requires measuring all forms of genetic variation, including SNPs and copy number variants (CNVs), and is enabled by accurate maps of their locations,Expand
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Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
Accurate and complete measurement of single nucleotide (SNP) and copy number (CNV) variants, both common and rare, will be required to understand the role of genetic variation in disease. We presentExpand
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Mapping copy number variation by population scale genome sequencing
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotideExpand
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Mapping and sequencing of structural variation from eight human genomes
Genetic variation among individual humans occurs on many different scales, ranging from gross alterations in the human karyotype to single nucleotide changes. Here we explore variation on anExpand
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High-throughput screening using patient-derived tumor xenografts to predict clinical trial drug response
Profiling candidate therapeutics with limited cancer models during preclinical development hinders predictions of clinical efficacy and identifying factors that underlie heterogeneous patientExpand
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Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases andExpand
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Rare chromosomal deletions and duplications increase risk of schizophrenia
Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73–90% (ref. 1). Inheritance patterns are complex, andExpand
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The plasticity of dendritic cell responses to pathogens and their components.
Dendritic cells are involved in the initiation of both innate and adaptive immunity. To systematically explore how dendritic cells modulate the immune system in response to different pathogens, weExpand
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Next-generation characterization of the Cancer Cell Line Encyclopedia
Large panels of comprehensively characterized human cancer models, including the Cancer Cell Line Encyclopedia (CCLE), have provided a rigorous framework with which to study genetic variants,Expand
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