Increasing diversity of functional genetics studies to advance biological discovery and human health

SHL George, A Medina-Rivera, Y Idaghdour… - The American Journal of …, 2023 - cell.com
In this perspective we discuss the current lack of genetic and environmental diversity in
functional genomics datasets. There is a well-described Eurocentric bias in genetic and …

Preimplantation genetic testing for polygenetic conditions: a legal, ethical, and scientific challenge

P Ginod, MH Dahan - Seminars in Reproductive Medicine, 2024 - thieme-connect.com
The recent commercialization of the Embryo Health Score (EHS), determined through
preimplantation genetic testing for polygenic conditions, offers the potential to select …

A polygenic risk score enhances risk prediction for adolescents' antisocial behavior over the combined effect of 22 extra-familial, familial, and individual risk factors in …

FL Wang, KE Bountress, K Lemery-Chalfant… - Prevention …, 2023 - Springer
Possessing informative tools to predict who is most at risk for antisocial behavior in
adolescence is important to help identify families most in need of early intervention …

[HTML][HTML] cLD: Rare-variant linkage disequilibrium between genomic regions identifies novel genomic interactions

D Wang, D Perera, J He, C Cao, P Kossinna, Q Li… - PLoS …, 2023 - journals.plos.org
Linkage disequilibrium (LD) is a fundamental concept in genetics; critical for studying
genetic associations and molecular evolution. However, LD measurements are only reliable …

[PDF][PDF] Genome-wide classification of epigenetic activity reveals regions of enriched heritability in immune-related traits

M Stricker, W Zhang, WY Cheng, S Gazal, C Dendrou… - Cell Genomics, 2024 - cell.com
Epigenetics underpins the regulation of genes known to play a key role in the adaptive and
innate immune system (AIIS). We developed a method, EpiNN, that leverages epigenetic …

[HTML][HTML] Artificial Intelligence for Risk Assessment on Primary Prevention of Coronary Artery Disease

SF Chen, S Loguercio, KY Chen, SE Lee… - Current Cardiovascular …, 2023 - Springer
Abstract Purpose of Review Coronary artery disease (CAD) is a common and etiologically
complex disease worldwide. Current guidelines for primary prevention, or the prevention of …

Genetic and molecular architecture of complex traits

T Lappalainen, YI Li, S Ramachandran, A Gusev - Cell, 2024 - cell.com
Human genetics has emerged as one of the most dynamic areas of biology, with a
broadening societal impact. In this review, we discuss recent achievements, ongoing efforts …

[HTML][HTML] Benchmarking multi-ancestry prostate cancer polygenic risk scores in a real-world cohort

Y Shah, S Kulm, JT Nauseef, Z Chen… - PLOS Computational …, 2024 - journals.plos.org
Prostate cancer is a heritable disease with ancestry-biased incidence and mortality.
Polygenic risk scores (PRSs) offer promising advancements in predicting disease risk …

Bayesian genome-wide analysis of cattle traits using variants with functional and evolutionary significance

R Xiang, EJ Breen, CP Prowse-Wilkins… - Animal Production …, 2021 - CSIRO Publishing
Context Functional genomics studies have highlighted genomic regions with regulatory and
evolutionary significance. Such information independent of association analysis may benefit …

Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits

T Lencz, M Sabatello, A Docherty, RE Peterson… - The Lancet …, 2022 - thelancet.com
Private companies have begun offering services to allow parents undergoing in-vitro
fertilisation to screen embryos for genetic risk of complex diseases, including psychiatric …