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 …

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

Systematic differences in discovery of genetic effects on gene expression and complex traits

H Mostafavi, JP Spence, S Naqvi, JK Pritchard - Nature Genetics, 2023 - nature.com
Most signals in genome-wide association studies (GWAS) of complex traits implicate
noncoding genetic variants with putative gene regulatory effects. However, currently …

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 …

Polygenic architecture of rare coding variation across 394,783 exomes

DJ Weiner, A Nadig, KA Jagadeesh, KK Dey, BM Neale… - Nature, 2023 - nature.com
Both common and rare genetic variants influence complex traits and common diseases.
Genome-wide association studies have identified thousands of common-variant …

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 …

[PDF][PDF] Low-density lipoproteins cause atherosclerotic cardiovascular disease: pathophysiological, genetic, and therapeutic insights: a consensus statement from the …

J Boren, MJ Chapman, RM Krauss… - European heart …, 2020 - academic.oup.com
OP-EHEA191011_online 2313..2340 Page 1 Low-density lipoproteins cause atherosclerotic
cardiovascular disease: pathophysiological, genetic, and therapeutic insights: a consensus …

Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity

S Gazal, O Weissbrod, F Hormozdiari, KK Dey… - Nature Genetics, 2022 - nature.com
Disease-associated single-nucleotide polymorphisms (SNPs) generally do not implicate
target genes, as most disease SNPs are regulatory. Many SNP-to-gene (S2G) linking …