Results 41 to 50 of about 31,405 (257)

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
doaj   +2 more sources

Polygenic risk scores in familial Alzheimer disease [PDF]

Neurology, 2017
To investigate the association between a genetic risk score (GRS) and familial late-onset Alzheimer disease (LOAD) and its predictive value in families multiply affected by the disease.Using data from the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease (National Institute on Aging-Late-Onset Alzheimer's Disease Family ...
Tosto, Giuseppe, Bird, Thomas D., Tsuang, Debby, Bennett, David A., Boeve, Bradley F., Cruchaga, Carlos, Faber, Kelley, Foroud, Tatiana M., Farlow, Martin, Goate, Alison M., Bertlesen, Sarah, Graff-Radford, Neill R., Medrano, Martin, Lantigua, Rafael, Manly, Jennifer, Ottman, Ruth, Rosenberg, Roger, Schaid, Daniel J., Schupf, Nicole, Stern, Yaakov, Sweet, Robert A., Mayeux, Richard   +21 more
openaire   +3 more sources

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Polygenic transcriptome risk scores improve portability of polygenic risk scores across ancestries [PDF]

, 2020
Abstract Polygenic risk scores (PRS) are on course to translate the results of genome-wide association studies (GWAS) into clinical practice. To date, most GWAS have been based on individuals of European-ancestry, meaning that the utility of PRS for non-European populations is limited because SNP effects and LD patterns may not be ...
Yanyu Liang, Milton Pividori, Ani Manichaikul, Abraham A. Palmer, Nancy J. Cox, Heather Wheeler, Hae Kyung Im   +6 more
openaire   +1 more source

Fusogenic RNA Nanomodules for Fusion‐Mediated and Multiplexed siRNA Delivery

Advanced Functional Materials, EarlyView.
A fusogenic lipid‐layered RNA nanomodules (L‐CRAMs) enable high‐capacity and long‐lasting siRNA delivery through membrane fusion. These nanomodules carry exceptionally large siRNA payloads, avoid conventional endosomal uptake, and release multiple functional siRNAs through Dicer‐mediated processing.
Sunghyun Moon, Iksoo Jang, Taehyeon Kim, Nayoung Yoon, Kyuha Yum, Jong Bum Lee   +5 more
wiley   +1 more source

Admixture-informed polygenic risk reporting using the ePRS framework

Nature Communications
Polygenic risk score values vary with genetic ancestry due to differences in population-specific allele frequencies and linkage disequilibrium patterns. We present a framework to calibrate polygenic risk scores based on ancestral makeup.
Yu-Jyun Huang, Nuzulul Kurniansyah, Matthew O. Goodman, Brian W. Spitzer, Jiongming Wang, Adrienne Stilp, Cecelia Laurie, Paul S. de Vries, Han Chen, Yuan-I Min, Mario Sims, Gina M. Peloso, Xiuqing Guo, Joshua C. Bis, Jennifer A. Brody, Laura M. Raffield, Jennifer A. Smith, Wei Zhao, Jerome I. Rotter, Stephen S. Rich, Susan Redline, Myriam Fornage, Robert Kaplan, Nora Franceschini, Daniel Levy, Alanna C. Morrison, Eric Boerwinkle, Nicholas L. Smith, Charles Kooperberg, Bruce M. Psaty, Sebastian Zöllner, the Trans-Omics for Precision Medicine Consortium, Tamar Sofer   +32 more
doaj   +1 more source

The RNA‐Binding Protein PARN Remodeled 3′ UTR Structure Defines Poly(A)‐Loading Sites to Mediate Immunoglobulin Homeostasis

Advanced Science, EarlyView.
ABSTRACT Class Switch Recombination (CSR) is essential for generating high‐affinity antibody isotypes from IgM during adaptive humoral responses. Despite well‐established roles for various transcription factors, whether CSR is subject to dedicated post‐transcriptional control represents a significant gap in knowledge.
Siyuan Sun, Chen Yang, Xiaoyu Wang, Naijing Hu, Shengyao Zhang, Xinchun Li, Yu Chen, Jianan Zhai, Xiangfeng Tang, Wei Lu, Chenxu Lu, Changchang Cao, Weiru Yu, Wenhao Wu, Xiaonan Nie, Fengchao Wang, Bing Fang, Fazheng Ren, Yixuan Li, Juan Chen   +19 more
wiley   +1 more source

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
doaj   +1 more source

Long‐Term Ambient Benzene Exposure and Brain Disorders Among Urban Adults: Effect Modification by Genetic Susceptibility and Potential Mediation by Plasma Proteins

Advanced Science, EarlyView.
Low‐level ambient benzene exposure is associated with increased risks of multiple brain disorders in urban adults. Genetic susceptibility modifies these associations, while plasma proteomics points to potential biological pathways linking benzene exposure to adverse brain health.
Jianhui Guo, Xia Zhong, Petros Koutrakis, Carolina L. Zilli Vieira, Feifei Si, Yaqi Wang, Xinyao Lian, Yi Fan, Zhaokun Wang, Shaodan Huang, Jing Li   +10 more
wiley   +1 more source

Polygenic risk score for type 2 diabetes shows context-dependent effects across populations

Nature Communications
Polygenic risk scores hold prognostic value for identifying individuals at higher risk of type 2 diabetes. However, further characterization is needed to understand the generalizability of type 2 diabetes polygenic risk scores in diverse populations ...
Boya Guo, Yanwei Cai, Daeeun Kim, Roelof A. J. Smit, Zhe Wang, Kruthika R. Iyer, Austin T. Hilliard, Jeffrey Haessler, Ran Tao, K. Alaine Broadaway, Yujie Wang, Nikita Pozdeyev, Frederik F. Stæger, Chaojie Yang, Brett Vanderwerff, Amit D. Patki, Lauren Stalbow, Meng Lin, Nicholas Rafaels, Jonathan Shortt, Laura Wiley, Maggie Stanislawski, Jack Pattee, Lea Davis, Peter S. Straub, Megan M. Shuey, Nancy J. Cox, Nanette R. Lee, Marit E. Jørgensen, Peter Bjerregaard, Christina Larsen, Torben Hansen, Ida Moltke, James B. Meigs, Daniel O. Stram, Xianyong Yin, Xiang Zhou, Kyong-Mi Chang, Shoa L. Clarke, Rodrigo Guarischi-Sousa, Joanna Lankester, Philip S. Tsao, Steven Buyske, Mariaelisa Graff, Laura M. Raffield, Quan Sun, Lynne R. Wilkens, Christopher S. Carlson, Charles B. Easton, Simin Liu, JoAnn E. Manson, Loïc L. Marchand, Christopher A. Haiman, Karen L. Mohlke, Penny Gordon-Larsen, Anders Albrechtsen, Michael Boehnke, Stephen S. Rich, Ani Manichaikul, Jerome I. Rotter, Noha A. Yousri, Ryan M. Irvin, The biobank at the Colorado Center for Personalized Medicine (CCPM), VA Million Veteran Program (MVP), Chris Gignoux, Kari E. North, Ruth J. F. Loos, Themistocles L. Assimes, Ulrike Peters, Charles Kooperberg, Sridharan Raghavan, Heather M. Highland, Burcu F. Darst   +72 more
doaj   +1 more source