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Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes
Personalized medicine is expected to benefit from combining genomic information with regular monitoring of physiological states by multiple high-throughput methods. Here, we present an integrativeExpand
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Exome Aggregation Consortium
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel PExpand
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Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations.
Waist circumference (WC) and waist-to-hip ratio (WHR) are surrogate measures of central adiposity that are associated with adverse cardiovascular events, type 2 diabetes and cancer independent ofExpand
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Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples
Recent research has uncovered an important role for de novo variation in neurodevelopmental disorders. Using aggregated data from 9246 families with autism spectrum disorder, intellectual disability,Expand
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A New System for Comparative Functional Genomics of Saccharomyces Yeasts
Whole-genome sequencing, particularly in fungi, has progressed at a tremendous rate. More difficult, however, is experimental testing of the inferences about gene function that can be drawn fromExpand
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Population‐specific single‐nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans
African Americans have a higher incidence of venous thromboembolism (VTE) than European descent individuals. However, the typical genetic risk factors in populations of European descent are nearlyExpand
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UK 10 K Consortium
Human knockouts and phenotypic analysis 1 in a cohort with a high rate of consanguinity 2 3
Danish Saleheen†*, Pradeep Natarajan†, Irina Armean, Wei Zhao, Asif Rasheed, 4 Sumeet Khetarpal, Hong-Hee Won, Konrad J. Karczewski, Anne H. O’Donnell5 Luria, Kaitlin E. Samocha, Namrata Gupta,Expand
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