Results 171 to 180 of about 98,679 (202)

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability. [PDF]

Nat Genet
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SJ, Altman G, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, Veldink J, Tucci A, Sharp AJ.   +23 more
europepmc   +1 more source

Identifying potential effects of relative age in school year: an instrumental variable phenome-wide association study in the UK Biobank

, 2023
de Lange MA, Davies NM, Millard LA, Tilling K.   +3 more
europepmc   +1 more source

Polygenic risk score-based phenome-wide association study of head and neck cancer across two large biobanks. [PDF]

BMC Med
Lee YC, Jung SH, Shivakumar M, Cha S, Park WY, Won HH, Eun YG, Biobank PM, Kim D.   +8 more
europepmc   +1 more source

A Case-Crossover Phenome-wide Association Study (PheWAS) for Understanding Post-COVID-19 Diagnosis Patterns

, 2022
Haupert SR, Shi X, Chen C, Fritsche LG, Mukherjee B.   +4 more
europepmc   +1 more source

Phenome-Wide Association Studies

JAMA - Journal of the American Medical Association, 2022
Josh Denny, Dan Roden, Lisa Bastarache   +2 more
exaly   +4 more sources

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Maturation and application of phenome-wide association studies

Trends in Genetics, 2022
In the past 10 years since its introduction, phenome-wide association studies (PheWAS) have uncovered novel genotype-phenotype relationships. Along the way, PheWAS have evolved in many aspects as a study design with the expanded availability of large data repositories with genome-wide data linked to detailed phenotypic data.
Dana Crawford
exaly   +3 more sources

The challenges, advantages and future of phenome‐wide association studies

Immunology, 2014
SummaryOver the last decade, significant technological breakthroughs have revolutionized human genomic research in the form of genome‐wide association studies (GWASs). GWASs have identified thousands of statistically significant genetic variants associated with hundreds of human conditions including many with immunological aetiologies (e.g.
Scott Hebbring
exaly   +3 more sources

Are phenome-wide association studies feasible in a developing country?

Trends in Genetics, 2022
Phenome-wide association studies (PheWASs), a powerful approach that examines phenotypes associated with a genetic marker, have been used extensively in highly developed countries. Although there may be a clear need for PheWAS in a developing country such as the Philippines, limitations related to resources and practicality would make conducting them a
Romulo De Castro
exaly   +3 more sources

A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies [PDF]

Journal of Clinical Endocrinology and Metabolism, 2020
CONTEXT: As many as 75% of patients with polycystic ovary syndrome (PCOS) are estimated to be unidentified in clinical practice. OBJECTIVE: Utilizing polygenic risk prediction, we aim to identify the phenome-wide comorbidity patterns characteristic of ...
Lea K Davis, Digna Velez Edwards, Anubha Mahajan   +2 more
exaly   +4 more sources

Phenome-Wide Association Studies as a Tool to Advance Precision Medicine [PDF]

Annual Review of Genomics and Human Genetics, 2016
Beginning in the early 2000s, the accumulation of biospecimens linked to electronic health records (EHRs) made possible genome-phenome studies (i.e., comparative analyses of genetic variants and phenotypes) using only data collected as a by-product of typical health care.
Josh Denny, Dan Roden, Lisa Bastarache   +2 more
exaly   +3 more sources