15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

A review of feature selection methods for machine learning-based disease risk prediction

N Pudjihartono, T Fadason, AW Kempa-Liehr… - Frontiers in …, 2022 - frontiersin.org
Machine learning has shown utility in detecting patterns within large, unstructured, and
complex datasets. One of the promising applications of machine learning is in precision …

Reproducible brain-wide association studies require thousands of individuals

S Marek, B Tervo-Clemmens, FJ Calabro, DF Montez… - Nature, 2022 - nature.com
Magnetic resonance imaging (MRI) has transformed our understanding of the human brain
through well-replicated mapping of abilities to specific structures (for example, lesion …

Within-sibship genome-wide association analyses decrease bias in estimates of direct genetic effects

LJ Howe, MG Nivard, TT Morris, AF Hansen… - Nature …, 2022 - nature.com
Estimates from genome-wide association studies (GWAS) of unrelated individuals capture
effects of inherited variation (direct effects), demography (population stratification …

Causal relationship between gut microbiota and cancers: a two-sample Mendelian randomisation study

Y Long, L Tang, Y Zhou, S Zhao, H Zhu - BMC medicine, 2023 - Springer
Background Evidence from observational studies and clinical trials suggests that the gut
microbiota is associated with cancer. However, the causal association between gut …

A saturated map of common genetic variants associated with human height

L Yengo, S Vedantam, E Marouli, J Sidorenko, E Bartell… - Nature, 2022 - nature.com
Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–
50% of phenotypic variation in human height, but identifying the specific variants and …

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 …

Identifying disease-critical cell types and cellular processes by integrating single-cell RNA-sequencing and human genetics

KA Jagadeesh, KK Dey, DT Montoro, R Mohan… - Nature …, 2022 - nature.com
Genome-wide association studies provide a powerful means of identifying loci and genes
contributing to disease, but in many cases, the related cell types/states through which genes …

webTWAS: a resource for disease candidate susceptibility genes identified by transcriptome-wide association study

C Cao, J Wang, D Kwok, F Cui, Z Zhang… - Nucleic acids …, 2022 - academic.oup.com
The development of transcriptome-wide association studies (TWAS) has enabled
researchers to better identify and interpret causal genes in many diseases. However, there …

Small effects: The indispensable foundation for a cumulative psychological science

FM Götz, SD Gosling… - … on psychological science, 2022 - journals.sagepub.com
We draw on genetics research to argue that complex psychological phenomena are most
likely determined by a multitude of causes and that any individual cause is likely to have …