Results 51 to 60 of about 1,650,847 (244)

Polygenic risk score for ulcerative colitis predicts immune checkpoint inhibitor-mediated colitis

, 2023
<p>Weights from LDPred2 for the polygenic risk score for ulcerative colitis and Crohn's disease.</p ...
Quandt, Zoe, Faleck, David, Werking, Kristin, Li, Min, Kachuri, Linda, Lovly, Christine, Ziv, Elad, Khan, Khaleeq, Falcon, Christina, Patel, Devalben, Cardenas, Eduardo, Schoenfeld, Adam, Huntsman, Scott, Middha, Pooja, Zhan, Luna Jia, Aldrich, Melinda, Murray, Megan, Betti, Michael, Balaratnam, Karmugi, Princess Margaret Lung Group, Gubens, Matthew, Thummalapalli, Rohit   +21 more
core   +1 more source

Blood‐Based Biomarkers in Alzheimer's Disease: Advances in Detection Technologies and Clinical Applications

AGING MEDICINE, EarlyView.
Blood‐based biomarkers are emerging as accessible tools for Alzheimer's disease screening, diagnosis, risk stratification, and longitudinal monitoring. This review summarizes major biomarkers, including Aβ42/Aβ40, phosphorylated tau species, NfL, GFAP, genetic risk markers, and exploratory inflammatory, synaptic, and proteomic candidates.
Shuangshuang Li, Lin Huang, Qihao Guo
wiley   +1 more source

Patient Perspectives on Personalized Risk Communication Using Polygenic Risk Scores to Inform Colorectal Cancer Screening Decisions

AJPM Focus
Introduction: Colorectal cancer is increasingly diagnosed in people aged
Shauna R. Goldberg, MPH, Linda K. Ko, PhD, Li Hsu, PhD, Hang Yin, MS, Charles Kooperberg, PhD, Ulrike Peters, PhD, MPH, Andrea N. Burnett-Hartman, PhD, MPH   +6 more
doaj   +1 more source

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
doaj   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Integration of risk factor polygenic risk score with disease polygenic risk score for disease prediction

Communications Biology
Polygenic risk score (PRS) is useful for capturing an individual’s genetic susceptibility. However, previous studies have not fully exploited the potential of the risk factor PRS (RFPRS) for disease prediction.
Hyein Jung, Hae-Un Jung, Eun Ju Baek, Shin Young Kwon, Ji-One Kang, Ji Eun Lim, Bermseok Oh   +6 more
doaj   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Distribution of polygenic risk scores in the PGSNPS cohort.

, 2016
A) Non-weighted polygenic risk score. B) Weighted polygenic risk score.
Chris Twelves (3156528), Siddhartha Kar (510873), Jean E. Abraham (3156513), Paul D. P. Pharoah (146906), Anne-Laure Vallier (3156534), Leila Dorling (3156525), Christopher J. Poole (3156516), Louise Hiller (39742), Kyriaki Michailidou (205130), Janet A. Dunn (3156531), Carlos Caldas (1042), Susan Ingle (3156522), Sarah J. Bowden (3156519), Richard Hardy (3156537), Helena M. Earl (695366)   +14 more
core   +1 more source

Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos, Natasha Monte, Kaio Evandro Cardoso Aguiar, Rita de Cássia Calderaro, Aline Pasquini Santos, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐Dos‐Santos, Sandro José De Souza, Ândrea Ribeiro‐Dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista Dos Santos, Ney Pereira Carneiro Dos Santos   +11 more
wiley   +1 more source

Polygenic risk score prediction accuracy convergence

HGG Advances
Summary: Polygenic risk scores (PRSs) models trained from genome-wide association study (GWAS) results are set to play a pivotal role in biomedical research addressing multifactorial human diseases.
Léo Henches, Jihye Kim, Zhiyu Yang, Simone Rubinacci, Gabriel Pires, Clara Albiñana, Christophe Boetto, Hanna Julienne, Arthur Frouin, Antoine Auvergne, Yuka Suzuki, Sarah Djebali, Olivier Delaneau, Andrea Ganna, Bjarni Vilhjálmsson, Florian Privé, Hugues Aschard   +16 more
doaj   +1 more source