Results 61 to 70 of about 7,071,839 (288)

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

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

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

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

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

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

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

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

Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics

Nature Communications, 2023
Polygenic risk scores are used to improve risk prediction for common diseases but typically have reduced accuracy for individuals of non-European ancestry.
Jiacheng Miao, Hanmin Guo, Gefei Song, Zijie Zhao, Lin Hou, Qiongshi Lu   +5 more
doaj   +1 more source

Associations between the schizophrenia polygenic risk score and reports of childhood adversity.

, 2016
Associations between the schizophrenia polygenic risk score and reports of childhood adversity.
Helen L. Fisher (3129252), Marta Di Forti (3129243), Conrad Iyegbe (3129249), Valeria Mondelli (3129255), Katherine J. Aitchison (128071), Robin M. Murray (169904), Evangelos Vassos (231278), Antonella Trotta (3129246), Pak C. Sham (58020), Stacey S. Cherny (120484), Desmond D. Campbell (326016)   +10 more
core   +1 more source