Search Results - "Greenwood, M T"
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Genetic architecture: the shape of the genetic contribution to human traits and disease
Published in Nature reviews. Genetics (01-02-2018)“…Key Points The genetic architecture of common diseases is central to the scientific and clinical goals of human genetics because it directly impacts biology,…”
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Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases
Published in Nature genetics (01-01-2023)“…Metabolic processes can influence disease risk and provide therapeutic targets. By conducting genome-wide association studies of 1,091 blood metabolites and…”
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3
Vitamin D and Risk of Multiple Sclerosis: A Mendelian Randomization Study
Published in PLoS medicine (01-08-2015)“…Observational studies have demonstrated an association between decreased vitamin D level and risk of multiple sclerosis (MS); however, it remains unclear…”
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Development of a polygenic risk score to improve screening for fracture risk: A genetic risk prediction study
Published in PLoS medicine (02-07-2020)“…Since screening programs identify only a small proportion of the population as eligible for an intervention, genomic prediction of heritable risk factors could…”
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5
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors
Published in Acta neuropathologica (01-06-2016)“…Dysembryoplastic neuroepithelial tumor (DNET) is a benign brain tumor associated with intractable drug-resistant epilepsy. In order to identify underlying…”
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6
Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies
Published in Genetic epidemiology (01-05-2014)“…ABSTRACT Although a standard genome‐wide significance level has been accepted for the testing of association between common genetic variants and disease, the…”
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Reproductive decision making after the diagnosis of multiple sclerosis (MS)
Published in Multiple sclerosis (01-03-2013)“…Objective: This study aimed to determine reproductive practices and attitudes of North Americans diagnosed with multiple sclerosis (MS) and the reasons for…”
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The empirical power of rare variant association methods: results from sanger sequencing in 1,998 individuals
Published in PLoS genetics (01-02-2012)“…The role of rare genetic variation in the etiology of complex disease remains unclear. However, the development of next-generation sequencing technologies…”
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Polygenic risk for coronary heart disease acts through atherosclerosis in type 2 diabetes
Published in Cardiovascular diabetology (30-01-2020)“…Type 2 diabetes increases the risk of coronary heart disease (CHD), yet the mechanisms involved remain poorly described. Polygenic risk scores (PRS) provide an…”
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10
Identifying Differential Methylation in Cancer Epigenetics via a Bayesian Functional Regression Model
Published in Biomolecules (Basel, Switzerland) (29-05-2024)“…DNA methylation plays an essential role in regulating gene activity, modulating disease risk, and determining treatment response. We can obtain insight into…”
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11
Improved prediction of fracture risk leveraging a genome-wide polygenic risk score
Published in Genome medicine (03-02-2021)“…Accurately quantifying the risk of osteoporotic fracture is important for directing appropriate clinical interventions. While skeletal measures such as heel…”
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Functional normalization of 450k methylation array data improves replication in large cancer studies
Published in Genome biology (03-12-2014)“…We propose an extension to quantile normalization that removes unwanted technical variation using control probes. We adapt our algorithm, functional…”
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An evaluation of methods correcting for cell-type heterogeneity in DNA methylation studies
Published in Genome Biology (03-05-2016)“…Many different methods exist to adjust for variability in cell-type mixture proportions when analyzing DNA methylation studies. Here we present the result of…”
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14
PRS-on-Spark (PRSoS): a novel, efficient and flexible approach for generating polygenic risk scores
Published in BMC bioinformatics (08-08-2018)“…Polygenic risk scores (PRS) describe the genomic contribution to complex phenotypes and consistently account for a larger proportion of variance in outcome…”
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MDiNE: a model to estimate differential co-occurrence networks in microbiome studies
Published in Bioinformatics (01-03-2020)“…Abstract Motivation The human microbiota is the collection of microorganisms colonizing the human body, and plays an integral part in human health. A growing…”
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Chromosome-breakage genomic instability and chromothripsis in breast cancer
Published in BMC genomics (09-07-2014)“…Chromosomal breakage followed by faulty DNA repair leads to gene amplifications and deletions in cancers. However, the mere assessment of the extent of genomic…”
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A region-based gene association study combined with a leave-one-out sensitivity analysis identifies SMG1 as a pancreatic cancer susceptibility gene
Published in PLoS genetics (30-08-2019)“…Pancreatic adenocarcinoma (PC) is a lethal malignancy that is familial or associated with genetic syndromes in 10% of cases. Gene-based surveillance strategies…”
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Capturing additional genetic risk from family history for improved polygenic risk prediction
Published in Communications biology (16-06-2022)“…Family history of complex traits may reflect transmitted rare pathogenic variants, intra-familial shared exposures to environmental and lifestyle factors, as…”
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Whole-genome bisulfite sequencing in systemic sclerosis provides novel targets to understand disease pathogenesis
Published in BMC medical genomics (24-10-2019)“…Systemic sclerosis (SSc) is a rare autoimmune connective tissue disease whose pathogenesis remains incompletely understood. Increasing evidence suggests that…”
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A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
Published in Genome medicine (03-12-2021)“…Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous…”
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