Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

[HTML][HTML] Multi-omics approaches to disease

Y Hasin, M Seldin, A Lusis - Genome biology, 2017 - genomebiology.biomedcentral.com
High-throughput technologies have revolutionized medical research. The advent of
genotyping arrays enabled large-scale genome-wide association studies and methods for …

[HTML][HTML] Climate change impacts on food security-focus on perennial cropping systems and nutritional value

CP Leisner - Plant Science, 2020 - Elsevier
Anthropogenic increases in fossil fuel emissions have been a primary driver of increased
concentrations of atmospheric carbon dioxide ([CO 2]) and other greenhouse gases …

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

JZ Liu, S Van Sommeren, H Huang, SC Ng, R Alberts… - Nature …, 2015 - nature.com
Ulcerative colitis and Crohn's disease are the two main forms of inflammatory bowel disease
(IBD). Here we report the first trans-ancestry association study of IBD, with genome-wide or …

[HTML][HTML] The precision-recall plot is more informative than the ROC plot when evaluating binary classifiers on imbalanced datasets

T Saito, M Rehmsmeier - PloS one, 2015 - journals.plos.org
Binary classifiers are routinely evaluated with performance measures such as sensitivity and
specificity, and performance is frequently illustrated with Receiver Operating Characteristics …

Deconstructing the sources of genotype-phenotype associations in humans

AI Young, S Benonisdottir, M Przeworski, A Kong - Science, 2019 - science.org
Efforts to link variation in the human genome to phenotypes have progressed at a
tremendous pace in recent decades. Most human traits have been shown to be affected by a …

Multi-omics integration in biomedical research–A metabolomics-centric review

MA Wörheide, J Krumsiek, G Kastenmüller… - Analytica chimica …, 2021 - Elsevier
Recent advances in high-throughput technologies have enabled the profiling of multiple
layers of a biological system, including DNA sequence data (genomics), RNA expression …

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

J Bentham, DL Morris, DS Cunninghame Graham… - Nature …, 2015 - nature.com
Systemic lupus erythematosus (SLE) is a genetically complex autoimmune disease
characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous …

[HTML][HTML] A new approach for efficient genotype imputation using information from relatives

M Sargolzaei, JP Chesnais… - BMC …, 2014 - bmcgenomics.biomedcentral.com
Genotype imputation can help reduce genotyping costs particularly for implementation of
genomic selection. In applications entailing large populations, recovering the genotypes of …

[HTML][HTML] The advantages and limitations of trait analysis with GWAS: a review

A Korte, A Farlow - Plant methods, 2013 - plantmethods.biomedcentral.com
Over the last 10 years, high-density SNP arrays and DNA re-sequencing have illuminated
the majority of the genotypic space for a number of organisms, including humans, maize …