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Open AccessPathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure
Heart failure is a leading cause of mortality, yet our understanding of the genetic interactions underlying this disease remains incomplete. Here, we harvest 1352 healthy and failing human hearts directly from...
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Article
Open AccessPhysical activity, sleep and cardiovascular health data for 50,000 individuals from the MyHeart Counts Study
Studies have established the importance of physical activity and fitness for long-term cardiovascular health, yet limited data exist on the association between objective, real-world large-scale physical activi...
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Article
Open AccessBPG: Seamless, automated and interactive visualization of scientific data
We introduce BPG, a framework for generating publication-quality, highly-customizable plots in the R statistical environment.
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Open AccessBiological Insights Into Muscular Strength: Genetic Findings in the UK Biobank
We performed a large genome-wide association study to discover genetic variation associated with muscular strength, and to evaluate shared genetic aetiology with and causal effects of muscular strength on seve...
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Open AccessErratum to: A bedr way of genomic interval processing
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Genomic hallmarks of localized, non-indolent prostate cancer
Prostate tumours are highly variable in their response to therapies, but clinically available prognostic factors can explain only a fraction of this heterogeneity. Here we analysed 200 whole-genome sequences a...
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Open AccessA bedr way of genomic interval processing
Next-generation sequencing is making it critical to robustly and rapidly handle genomic ranges within standard pipelines. Standard use-cases include annotating sequence ranges with gene or other genomic annota...
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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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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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Open AccessCombining tumor genome simulation with crowdsourcing to benchmark somatic single-nucleotide-variant detection
The first report of the ICGC-TCGA DREAM Somatic Mutation Calling Challenge introduces the BAMSurgeon tool for accurate tumor simulation and reports the performance of 248 submissions in calling single-nucleoti...
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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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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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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 ...
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Open AccessRegion-based analysis in genome-wide association study of Framingham Heart Study blood lipid phenotypes
Due to the high-dimensionality of single-nucleotide polymorphism (SNP) data, region-based methods are an attractive approach to the identification of genetic variation associated with a certain phenotype. A co...
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Open AccessGenome-wide association analyses of North American Rheumatoid Arthritis Consortium and Framingham Heart Study data utilizing genome-wide linkage results
The power of genome-wide association studies can be improved by incorporating information from previous study findings, for example, results of genome-wide linkage analyses. Weighted false-discovery rate (FDR)...
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Open AccessTransmission-ratio distortion in the Framingham Heart Study
Transmission-ratio distortion (TRD) is a phenomenon in which the segregation of alleles does not obey Mendel's laws. As a simple example, a recessive locus that results in fetal lethality will result in live-b...
