The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care

JL Vassy, CA Brunette, MS Lebo, K MacIsaac… - The American Journal of …, 2023 - cell.com
Polygenic risk scores (PRSs) hold promise for disease risk assessment and prevention. The
Genomic Medicine at Veterans Affairs (GenoVA) Study is addressing three main challenges …

[HTML][HTML] The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

A Abu-El-Haija, HV Reddi, H Wand, NC Rose… - Genetics in …, 2023 - Elsevier
Polygenic inheritance is a non-Mendelian form of inheritance in which the risk of a trait,
disorder, or disease results from the combined contribution of variants from multiple genes …

Recent advances in polygenic scores: translation, equitability, methods and FAIR tools

R Xiang, M Kelemen, Y Xu, LW Harris, H Parkinson… - Genome Medicine, 2024 - Springer
Polygenic scores (PGS) can be used for risk stratification by quantifying individuals' genetic
predisposition to disease, and many potentially clinically useful applications have been …

Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

TA Grebe, G Khushf, JM Greally, P Turley, N Foyouzi… - Genetics in …, 2024 - Elsevier
Polygenic risk score (PRS) assessment for embryo selection (hereafter referred to as
preimplantation testing for polygenic disorder [PGT-P]) is an emerging reproductive …

Applications of genome sequencing as a single platform for clinical constitutional genetic testing

Y Yang, D del Gaudio, A Santani, SA Scott - Genetics in Medicine Open, 2024 - Elsevier
The number of human disease genes has dramatically increased over the past decade,
largely fueled by ongoing advances in sequencing technologies. In parallel, the number of …

[HTML][HTML] Валидация шкал генетического риска развития сахарного диабета 2 типа на выборке населения регионов России из биобанка" НМИЦ ТПМ"

АВ Киселева, АГ Сопленкова, ВА Куценко… - Кардиоваскулярная …, 2023 - cyberleninka.ru
Цель. Провести валидацию и оценить точность 14 шкал генетического риска (ШГР)
сахарного диабета 2 типа (СД2), созданных ранее в других странах, на выборке …

[HTML][HTML] Валидация шкал генетического риска ожирения на выборке населения регионов России

АВ Киселева, АГ Сопленкова, ВА Куценко… - Кардиоваскулярная …, 2023 - cyberleninka.ru
Цель. На выборке населения двух регионов европейской части России провести
валидацию и оценить точность 15 шкал генетического риска (ШГР) ожирения …

[PDF][PDF] Guidance for the clinical use of the breast cancer polygenic risk score testing

P Padrik - antegenes.com
This guidance endeavours to articulate the scientific evidence underpinning the clinical
utility of polygenic risk score in stratifying breast cancer risk, with a particular emphasis on …

[PDF][PDF] Morgan E. Danowski, Nicholas VJ Alexander, Mark P. Cardellino, Kurt D. Christensen, 3, 10 Manish Gala, 3, 11 Robert C. Green, 3, 4, 5, 12 Elizabeth Harris …

JL Vassy, CA Brunette, MS Lebo, K MacIsaac, T Yi - genomes2people.org
Polygenic risk scores (PRSs) hold promise for disease risk assessment and prevention. The
Genomic Medicine at Veterans Affairs (GenoVA) Study is addressing three main challenges …

Antegenes comments on the ACMG statements about the clinical application of polygenic risk scores

ICT Green - antegenes.com
The ACMG offers a thorough discussion of points to consider in the clinical application of
PRS. Antegenes strongly welcomes this initiative by the eminent organization of leading …