[HTML][HTML] Genomic data in the All of Us research program

All of Us Research Program Genomics Investigators - Nature, 2024 - ncbi.nlm.nih.gov
Comprehensively mapping the genetic basis of human disease across diverse individuals is
a long-standing goal for the field of human genetics 1–4. The All of Us Research Program is …

[HTML][HTML] A second update on mapping the human genetic architecture of COVID-19

M Kanai, SJ Andrews, M Cordioli, C Stevens, BM Neale… - Nature, 2023 - nature.com
Investigating the role of host genetic factors in COVID-19 severity and susceptibility can
inform our understanding of the underlying biological mechanisms that influence adverse …

[HTML][HTML] Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics

J Miao, H Guo, G Song, Z Zhao, L Hou, Q Lu - Nature Communications, 2023 - nature.com
Polygenic risk scores (PRS) calculated from genome-wide association studies (GWAS) of
Europeans are known to have substantially reduced predictive accuracy in non-European …

The genetics of human performance

DS Kim, MT Wheeler, EA Ashley - Nature Reviews Genetics, 2022 - nature.com
Human physiology is likely to have been selected for endurance physical activity. However,
modern humans have become largely sedentary, with physical activity becoming a leisure …

[HTML][HTML] Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism

MJ Iglesias, L Sanchez-Rivera, M Ibrahim-Kosta… - nature …, 2023 - nature.com
Venous thromboembolism (VTE) is a common, multi-causal disease with potentially serious
short-and long-term complications. In clinical practice, there is a need for improved plasma …

Insights from complex trait fine-mapping across diverse populations

M Kanai, JC Ulirsch, J Karjalainen, M Kurki… - MedRxiv, 2021 - medrxiv.org
Despite the great success of genome-wide association studies (GWAS) in identifying genetic
loci significantly associated with diseases, the vast majority of causal variants underlying …

[HTML][HTML] The dopamine transporter gene SLC6A3: multidisease risks

MEA Reith, S Kortagere, CE Wiers, H Sun… - Molecular …, 2022 - nature.com
The human dopamine transporter gene SLC6A3 has been consistently implicated in several
neuropsychiatric diseases but the disease mechanism remains elusive. In this risk synthesis …

Cross-ancestry investigation of venous thromboembolism genomic predictors

F Thibord, D Klarin, JA Brody, MH Chen, MG Levin… - Circulation, 2022 - Am Heart Assoc
Background: Venous thromboembolism (VTE) is a life-threatening vascular event with
environmental and genetic determinants. Recent VTE genome-wide association studies …

[HTML][HTML] Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease

J Lake, C Warly Solsberg, JJ Kim, J Acosta-Uribe… - Molecular …, 2023 - nature.com
Genome-wide association studies (GWAS) of Alzheimer's disease are predominantly carried
out in European ancestry individuals despite the known variation in genetic architecture and …

The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

JS Weinstock, CA Laurie, JG Broome, KD Taylor… - Science …, 2023 - science.org
Nononcogenic somatic mutations are thought to be uncommon and inconsequential. To test
this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision …