Joshua C. Randall
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View article: common-workflow-language/cwltool: 3.1.20230201130431
common-workflow-language/cwltool: 3.1.20230201130431 Open
What's Changed better pass --skip-schemas by @mr-c in https://github.com/common-workflow-language/cwltool/pull/1795 Misc git blame: ignore mass-reformatting by @mr-c in https://github.com/common-workflow-language/cwltool/pull/1792 Bump doc…
View article: A Hands-on Learning Approach to Introducing Computer Organization and Architecture to Early-college Students
A Hands-on Learning Approach to Introducing Computer Organization and Architecture to Early-college Students Open
We present a design and implementation of a lower-level computer organization and architecture course with hands-on components presented as blended-learning modules that are collectively designed to introduce core computer design concepts …
View article: Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution
Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution Open
To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist–hip ratio (WHR). We s…
View article: Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics
Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics Open
Meta-analysis of genome-wide association studies (GWASs) has led to the discoveries of many common variants associated with complex human diseases. There is a growing recognition that identifying “causal” rare variants also requires large-…
View article: Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits
Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits Open
Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circum…
View article: Hundreds of variants clustered in genomic loci and biological pathways affect human height
Hundreds of variants clustered in genomic loci and biological pathways affect human height Open
Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence phenotype. Genome-wide association (GWA) studies have identified >600 variants associated with human traits…
View article: Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index Open
Obesity is globally prevalent and highly heritable, but the underlying genetic factors remain largely elusive. To identify genetic loci for obesity-susceptibility, we examined associations between body mass index (BMI) and ~2.8 million SNP…
View article: Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Open
Circulating glucose levels are tightly regulated. To identify novel glycemic loci, we performed meta-analyses of 21 genome-wide associations studies informative for fasting glucose (FG), fasting insulin (FI) and indices of β-cell function …
View article: Quality control and conduct of genome-wide association meta-analyses
Quality control and conduct of genome-wide association meta-analyses Open
Rigorous organization and quality control (QC) are necessary to facilitate successful genome-wide association meta-analyses (GWAMAs) of statistics aggregated across multiple genome-wide association studies. This protocol provides guideline…
View article: Genetic studies of body mass index yield new insights for obesity biology
Genetic studies of body mass index yield new insights for obesity biology Open
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to def…
View article: Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation Open
Common variants at only two loci, FTO and MC4R, have been reproducibly associated with body mass index (BMI) in humans. To identify additional loci, we conducted meta-analysis of 15 genome-wide association studies for BMI (n > 32,000) and …
View article: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution Open
Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a …
View article: Defining the role of common variation in the genomic and biological architecture of adult human height
Defining the role of common variation in the genomic and biological architecture of adult human height Open
Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explain one-fifth of heritability for adult height. By testing different numbers of variants in independent studies, we s…
View article: New genetic loci link adipose and insulin biology to body fat distribution
New genetic loci link adipose and insulin biology to body fat distribution Open
Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular link…
View article: Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture Open
Approaches exploiting extremes of the trait distribution may reveal novel loci for common traits, but it is unknown whether such loci are generalizable to the general population. In a genome-wide search for loci associated with upper vs. l…
View article: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk Open
Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and indices of beta-ce…
View article: Supplementary Material 3
Supplementary Material 3 Open
Sum of cells within 5° latitudinal bins for all model classes, binary thresholds and climate scenarios.
View article: Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7 Open
View article: Exploring the genetic architecture of inflammatory bowel disease by whole genome sequencing identifies association at<i>ADCY7</i>
Exploring the genetic architecture of inflammatory bowel disease by whole genome sequencing identifies association at<i>ADCY7</i> Open
In order to further resolve the genetic architecture of the inflammatory bowel diseases, ulcerative colitis and Crohn’s disease, we sequenced the whole genomes of 4,280 patients at low coverage, and compared them to 3,652 previously sequen…
View article: Goldilocks: a tool for identifying genomic regions that are ‘just right’
Goldilocks: a tool for identifying genomic regions that are ‘just right’ Open
Summary: We present Goldilocks: a Python package providing functionality for collecting summary statistics, identifying shifts in variation, discovering outlier regions and locating and extracting interesting regions from one or more arbit…
View article: New genetic loci link adipose and insulin biology to body fat distribution
New genetic loci link adipose and insulin biology to body fat distribution Open
View article: Genetic studies of body mass index yield new insights for obesity biology
Genetic studies of body mass index yield new insights for obesity biology Open
View article: Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci
Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci Open
Endometriosis is a chronic inflammatory condition in women that results in pelvic pain and subfertility, and has been associated with decreased body mass index (BMI). Genetic variants contributing to the heritable component have started to…
View article: Genetic studies of body mass index yield new insights for obesity biology
Genetic studies of body mass index yield new insights for obesity biology Open
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to def…