[HTML][HTML] Genome-wide association studies

E Uffelmann, QQ Huang, NS Munung… - Nature Reviews …, 2021 - nature.com
Genome-wide association studies (GWAS) test hundreds of thousands of genetic variants
across many genomes to find those statistically associated with a specific trait or disease …

Endometriosis is a chronic systemic disease: clinical challenges and novel innovations

HS Taylor, AM Kotlyar, VA Flores - The Lancet, 2021 - thelancet.com
Endometriosis is a common disease affecting 5–10% of women of reproductive age globally.
However, despite its prevalence, diagnosis is typically delayed by years, misdiagnosis is …

[HTML][HTML] Graph pangenome captures missing heritability and empowers tomato breeding

Y Zhou, Z Zhang, Z Bao, H Li, Y Lyu, Y Zan, Y Wu… - Nature, 2022 - nature.com
Missing heritability in genome-wide association studies defines a major problem in genetic
analyses of complex biological traits,. The solution to this problem is to identify all causal …

The crucial role of genome-wide genetic variation in conservation

M Kardos, EE Armstrong… - Proceedings of the …, 2021 - National Acad Sciences
The unprecedented rate of extinction calls for efficient use of genetics to help conserve
biodiversity. Several recent genomic and simulation-based studies have argued that the …

[HTML][HTML] Pathophysiology, phenotypes and management of type 2 diabetes mellitus in Indian and Chinese populations

C Ke, KMV Narayan, JCN Chan, P Jha… - Nature Reviews …, 2022 - nature.com
Nearly half of all adults with type 2 diabetes mellitus (T2DM) live in India and China. These
populations have an underlying predisposition to deficient insulin secretion, which has a key …

[HTML][HTML] Polygenic scoring accuracy varies across the genetic ancestry continuum

Y Ding, K Hou, Z Xu, A Pimplaskar, E Petter, K Boulier… - Nature, 2023 - nature.com
Polygenic scores (PGSs) have limited portability across different groupings of individuals (for
example, by genetic ancestries and/or social determinants of health), preventing their …

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 …

Advancing the use of genome-wide association studies for drug repurposing

WR Reay, MJ Cairns - Nature Reviews Genetics, 2021 - nature.com
Genome-wide association studies (GWAS) have revealed important biological insights into
complex diseases, which are broadly expected to lead to the identification of new drug …

[HTML][HTML] ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

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 …