5 Result(s)
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Daryl Waggott
Biomedicine
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Article
Open AccessMedical implications of technical accuracy in genome sequencing
As whole exome sequencing (WES) and whole genome sequencing (WGS) transition from research tools to clinical diagnostic tests, it is increasingly critical for sequencing methods and analysis pipelines to be te...
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Article
Spatial genomic heterogeneity within localized, multifocal prostate cancer
Paul Boutros, Robert Bristow and colleagues report a molecular analysis of the spatial heterogeneity of clinically localized, multifocal prostate cancer. They find that multifocal tumors are highly heterogeneo...
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Article
Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands
Jorge Reis-Filho and colleagues identify recurrent mutations in PRKD1 in 73% of polymorphous low-grade adenocarcinoma, a malignant tumor of the minor salivary glands. The mutations cause activation of the PRKD1 s...
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Article
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Christopher Newton-Cheh and colleagues report genome-wide association analyses for QT interval, an electrocardiographic measure reflecting myocardial repolarization, in 100,000 individuals. They identify 35 lo...
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Article
Open AccessBR-squared: a practical solution to the winner’s curse in genome-wide scans
The detrimental effects of the winner’s curse, including overestimation of the genetic effects of associated variants and underestimation of sufficient sample sizes for replication studies are well-recognized ...
