Results 61 to 70 of about 733,000 (317)
FEBS Open Bio, EarlyView.This review highlights how foundation models enhance predictive healthcare by integrating advanced digital twin modeling with multiomics and biomedical data. This approach supports disease management, risk assessment, and personalized medicine, with the goal of optimizing health outcomes through adaptive, interpretable digital simulations, accessible ...
Sakhaa Alsaedi +2 more
wiley +1 more source
Statistical Methods For Detecting Genetic Risk Factors of a Disease with Applications to Genome-Wide Association Studies [PDF]
, 2015 This thesis aims to develop various statistical methods for analysing the data derived from genome wide association studies (GWAS). The GWAS often involves genotyping individual human genetic variation, using high-throughput genome-wide single ...
Ali, Fadhaa +1 more
core
Human gene copy number spectra analysis in congenital heart malformations [PDF]
, 2012 The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P. +13 more
core +2 more sources
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
Joint QTL linkage mapping for multiple-cross mating design sharing one common parent. [PDF]
PLoS ONE, 2011 BackgroundNested association mapping (NAM) is a novel genetic mating design that combines the advantages of linkage analysis and association mapping. This design provides opportunities to study the inheritance of complex traits, but also requires more ...
Huihui Li +4 more
doaj +1 more source
On Flexible finite polygenic models for multiple-trait evaluation [PDF]
, 2002 Finite polygenic models (FPM) might be an alternative to the infinitesimal model (TIM) for the genetic evaluation of pedigreed multiple-generation populations for multiple quantitative traits.
Bink, M.C.A.M.
core +2 more sources
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman +2 more
wiley +1 more source
Pharmaceuticals, 2019 Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following five ...
Beatriz Cadenas +10 more
doaj +1 more source
Genome Medicine, 2021 Background Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases.
Francisco M. De La Vega +27 more
doaj +1 more source