Results 51 to 60 of about 65,839 (347)

Metrics for Evaluating Polygenic Risk Scores [PDF]

JNCI Cancer Spectrum, 2020
Abstract There is growing interest in the use of polygenic risk scores based on genetic variants to predict cancer incidence. The type of metric used to evaluate the predictive performance of polygenic risk scores plays a crucial role in their interpretation.
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Epistatic effect of TLR3 and cGAS‐STING‐IKKε‐TBK1‐IFN signaling variants on colorectal cancer risk

Cancer Medicine, 2020
Objective The TLR3/cGAS‐STING‐IFN signaling has recently been reported to be disturbed in colorectal cancer due to deregulated expression of the genes involved.
Calogerina Catalano, Miguel Inacio daSilva Filho, Christoph Frank, Shun Lu, Katerina Jiraskova, Veronika Vymetalkova, Miroslav Levy, Vaclav Liska, Ondrej Vycital, Alessio Naccarati, Ludmila Vodickova, Kari Hemminki, Pavel Vodicka, Alexander N. R. Weber, Asta Försti   +14 more
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The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores

Communications Biology, 2022
The Polygenic Risk Score Knowledge Base (PRSKB) is a web-based interface that stores data from >2,300 distinct genome-wide association studies, and can estimate polygenic risk scores for general use.
Madeline L. Page, Elizabeth L. Vance, Matthew E. Cloward, Ed Ringger, Louisa Dayton, Mark T. W. Ebbert, The Alzheimer’s Disease Neuroimaging Initiative, Justin B. Miller, John S. K. Kauwe   +8 more
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Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J, Bryson, SE, Buchanan, JA, D'Abate, L, Davies, RW, Dobkins, K, Howe, J, Landa, R, Leef, J, Messinger, D, Ozonoff, S, Scherer, SW, Smith, IM, Stone, WL, Tammimies, K, Thiruvahindrapuram, B, Walker, S, Warren, ZE, Wei, J, Young, G, Yuen, RKC, Zwaigenbaum, L   +21 more
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Multi-Polygenic Risk Score Prediction Model for Bipolar Disorder

, 2019
Bipolar disorder (BP), a severe mental disorder characterized by recurring manic and depressive episodes, has been shown to have a strong genetic underpinning.
Mize, Travis
core   +1 more source

Single-nucleotide polymorphism-based genetic risk score and patient age at prostate cancer diagnosis [PDF]

, 2019
Importance: Few studies have evaluated the association between a single-nucleotide polymorphism-based genetic risk score (GRS) and patient age at prostate cancer (PCa) diagnosis.
Andriole, Gerald L, Fantus, Richard J, Helfand, Brian T, Isaacs, William B, Labbate, Craig, Na, Rong, Shi, Zhuqing, Wang, Chi-Hsiung, Xu, Jianfeng, Yu, Hongjie, Zheng, S Lilly   +10 more
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PGSXplorer: an integrated nextflow pipeline for comprehensive quality control and polygenic score model development [PDF]

PeerJ
The rapid development of next-generation sequencing technologies and genomic data sharing initiatives during the post-Human Genome Project-era has catalyzed major advances in individualized medicine research.
Tutku Yaraş, Yavuz Oktay, Gökhan Karakülah   +2 more
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PRSet: Pathway-based polygenic risk score analyses and software.

PLoS Genetics, 2023
Polygenic risk scores (PRSs) have been among the leading advances in biomedicine in recent years. As a proxy of genetic liability, PRSs are utilised across multiple fields and applications.
Shing Wan Choi, Judit García-González, Yunfeng Ruan, Hei Man Wu, Christian Porras, Jessica Johnson, Bipolar Disorder Working group of the Psychiatric Genomics Consortium, Clive J Hoggart, Paul F O'Reilly   +8 more
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Neurocognitive trajectory and proteomic signature of inherited risk for Alzheimer's disease.

PLoS Genetics, 2022
For Alzheimer's disease-a leading cause of dementia and global morbidity-improved identification of presymptomatic high-risk individuals and identification of new circulating biomarkers are key public health needs.
Manish D Paranjpe, Mark Chaffin, Sohail Zahid, Scott Ritchie, Jerome I Rotter, Stephen S Rich, Robert Gerszten, Xiuqing Guo, Susan Heckbert, Russ Tracy, John Danesh, Eric S Lander, Michael Inouye, Sekar Kathiresan, Adam S Butterworth, Amit V Khera   +15 more
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Polygenic risk scores and breast cancer risk prediction

The Breast, 2023
Polygenic Risk Scores (PRS) are a major component of accurate breast cancer risk prediction and have the potential to improve screening and prevention strategies. PRS combine the risk from Single nucleotide polymorphisms (SNPs) associated with breast cancer in Genome Wide Association Studies (GWAS) and explain over 30% of breast cancer heritability ...
Eleanor Roberts, Sacha Howell, D Gareth Evans   +2 more
openaire   +3 more sources