Results 51 to 60 of about 21,579,379 (182)

Towards a Compositional Framework for Describing Human Phenotypes

open access: yesAdvanced Science, EarlyView.
The Phenotype Assembly Method (PhenoAM) decomposes phenotype variables into measurable Features and typed Qualifiers, enabling standardized, machine‐readable Phenome Data Elements (PhenoDEs) that preserve measurement context. Applied in the International Human Phenome Project (IHPP), the framework yields 58 371 PhenoDEs and supports component‐level ...
Wanting Hu   +11 more
wiley   +1 more source

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process [PDF]

open access: yes, 2014
Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of ...
Springelkamp, H   +667 more
core   +6 more sources

Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes

open access: yesGenome Medicine, 2021
Background Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related disorders including schizophrenia, intellectual disability, obesity, bipolar disorder, and autism spectrum ...
Mikhail Vysotskiy   +8 more
doaj   +1 more source

Analysis of HLA Variants and Graves’ Disease and Its Comorbidities Using a High Resolution Imputation System to Examine Electronic Medical Health Records

open access: yesFrontiers in Endocrinology, 2022
Hyperthyroidism is a prevalent endocrine disorder, and genetics play a major role in the development of thyroid-associated diseases. In particular, the inheritance of HLA has been demonstrated to induce the highest susceptibility to Graves’ disease (GD).
Wen-Ling Liao   +12 more
doaj   +1 more source

MAPA: A Semantic Network Framework for Functional Module Discovery and Interpretation in Multi‐Omics Data

open access: yesAdvanced Science, EarlyView.
MAPA transforms complex multi‐omics data into biologically coherent functional modules by integrating pathway information with molecular interaction networks. Retrieval‐augmented large language models then generate structured, literature‐informed interpretations.
Yifei Ge   +13 more
wiley   +1 more source

National Women's Studies Association 23rd Annual Conference [PDF]

open access: yes, 2002
Digitized program for the National Women's Studies Association 23rd Annual Conference, held June 13-16, 2002, in Las Vegas ...
National Women's Studies Association
core   +1 more source

Predictors of Change in Severity of Self‐Injurious Behaviors in Preschool‐Aged Autistic Children

open access: yesAutism Research, EarlyView.
ABSTRACT Self‐injurious behaviors (SIBs) affect up to 50% of autistic individuals and significantly impact quality of life and everyday functioning. Cross‐sectional studies link the presence of SIB to lower IQ, altered sensory responsivity, and poor emotion regulation, yet their effect on changes in SIB severity from early childhood to school age in ...
Joseph Boyle   +9 more
wiley   +1 more source

A Phenome Wide Association Study of Multiple Sclerosis and COmorbidities [PDF]

open access: yes, 2017
Genome wide association studies (GWAS) have identified relationships between many different genes and diseases. GWAS studies scan whole genomes of many individuals and then associate genetic variants with diseases that the individuals have.
Davis, Mary, Frodsham, Scott
core  

Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins [PDF]

open access: yes, 2014
Statins effectively lower LDL cholesterol levels in large studies and the observed interindividual response variability may be partially explained by genetic variation.
Herrington, D.M.   +627 more
core   +2 more sources

Integrative Genomic and Functional Investigation of the Multi‐Layered Genetic Architecture Between Anorexia Nervosa and Bone Loss

open access: yesInternational Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Bone loss is a severe and often irreversible complication of anorexia nervosa (AN), yet the genetic mechanisms underlying this comorbidity remain underexplored. This study focuses on constructing a comprehensive genetic architecture between AN and estimated calcaneal bone mineral density (eBMD).
Tao Han   +14 more
wiley   +1 more source

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