Deconstructing a syndrome: genomic insights into PCOS causal mechanisms and classification

M Dapas, A Dunaif - Endocrine reviews, 2022 - academic.oup.com
Polycystic ovary syndrome (PCOS) is among the most common disorders in women of
reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria …

From basic science to clinical application of polygenic risk scores: a primer

NR Wray, T Lin, J Austin, JJ McGrath, IB Hickie… - JAMA …, 2021 - jamanetwork.com
Importance Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of
individuals to diseases. All individuals have DNA risk variants for all common diseases, but …

AGA clinical practice update: diagnosis and management of nonalcoholic fatty liver disease in lean individuals: expert review

MT Long, M Noureddin, JK Lim - Gastroenterology, 2022 - Elsevier
Description Nonalcoholic fatty liver disease (NAFLD) is well recognized as a leading
etiology for chronic liver disease, affecting> 25% of the US and global populations. Up to 1 …

Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Gut microbiome heritability is nearly universal but environmentally contingent

L Grieneisen, M Dasari, TJ Gould, JR Björk, JC Grenier… - Science, 2021 - science.org
Relatives have more similar gut microbiomes than nonrelatives, but the degree to which this
similarity results from shared genotypes versus shared environments has been …

Challenges and opportunities for develo** more generalizable polygenic risk scores

Y Wang, K Tsuo, M Kanai, BM Neale… - Annual review of …, 2022 - annualreviews.org
Polygenic risk scores (PRS) estimate an individual's genetic likelihood of complex traits and
diseases by aggregating information across multiple genetic variants identified from genome …

Tutorial: a guide to performing polygenic risk score analyses

SW Choi, TSH Mak, PF O'Reilly - Nature protocols, 2020 - nature.com
A polygenic score (PGS) or polygenic risk score (PRS) is an estimate of an individual's
genetic liability to a trait or disease, calculated according to their genotype profile and …

Update on NAFLD genetics: from new variants to the clinic

E Trépo, L Valenti - Journal of hepatology, 2020 - Elsevier
Non-alcoholic fatty liver disease (NAFLD) is the leading cause of liver diseases in high-
income countries and the burden of NAFLD is increasing at an alarming rate. The risk of …

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

H Zhang, TU Ahearn, J Lecarpentier, D Barnes… - Nature …, 2020 - nature.com
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor
subtype,–. To identify novel loci, we performed a genome-wide association study including …

Genetic impacts on DNA methylation: research findings and future perspectives

S Villicaña, JT Bell - Genome biology, 2021 - Springer
Multiple recent studies highlight that genetic variants can have strong impacts on a
significant proportion of the human DNA methylome. Methylation quantitative trait loci, or …