[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 …

[HTML][HTML] The genetics of obesity: from discovery to biology

RJF Loos, GSH Yeo - Nature Reviews Genetics, 2022 - nature.com
The prevalence of obesity has tripled over the past four decades, imposing an enormous
burden on people's health. Polygenic (or common) obesity and rare, severe, early-onset …

A cross-population atlas of genetic associations for 220 human phenotypes

S Sakaue, M Kanai, Y Tanigawa, J Karjalainen… - Nature …, 2021 - nature.com
Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …

Mendelian randomization

E Sanderson, MM Glymour, MV Holmes… - Nature Reviews …, 2022 - nature.com
Mendelian randomization (MR) is a term that applies to the use of genetic variation to
address causal questions about how modifiable exposures influence different outcomes …

[HTML][HTML] Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

A Okbay, Y Wu, N Wang, H Jayashankar, M Bennett… - Nature …, 2022 - nature.com
We conduct a genome-wide association study (GWAS) of educational attainment (EA) in a
sample of~ 3 million individuals and identify 3,952 approximately uncorrelated genome …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

A roadmap to increase diversity in genomic studies

S Fatumo, T Chikowore, A Choudhury, M Ayub… - Nature medicine, 2022 - nature.com
Two decades ago, the sequence of the first human genome was published. Since then,
advances in genome technologies have resulted in whole-genome sequencing and …

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

E Sollis, A Mosaku, A Abid, A Buniello… - Nucleic acids …, 2023 - academic.oup.com
Abstract The NHGRI-EBI GWAS Catalog (www. ebi. ac. uk/gwas) is a FAIR knowledgebase
providing detailed, structured, standardised and interoperable genome-wide association …

Underspecification presents challenges for credibility in modern machine learning

A D'Amour, K Heller, D Moldovan, B Adlam… - The Journal of Machine …, 2022 - dl.acm.org
Machine learning (ML) systems often exhibit unexpectedly poor behavior when they are
deployed in real-world domains. We identify underspecification in ML pipelines as a key …

Large-scale genome-wide association study of coronary artery disease in genetically diverse populations

C Tcheandjieu, X Zhu, AT Hilliard, SL Clarke… - Nature medicine, 2022 - nature.com
We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …