Multimodal biomedical AI

JN Acosta, GJ Falcone, P Rajpurkar, EJ Topol - Nature Medicine, 2022 - nature.com
The increasing availability of biomedical data from large biobanks, electronic health records,
medical imaging, wearable and ambient biosensors, and the lower cost of genome and …

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 …

Causal effects on complex traits are similar for common variants across segments of different continental ancestries within admixed individuals

K Hou, Y Ding, Z Xu, Y Wu, A Bhattacharya, R Mester… - Nature …, 2023 - nature.com
Individuals of admixed ancestries (for example, African Americans) inherit a mosaic of
ancestry segments (local ancestry) originating from multiple continental ancestral …

The sequences of 150,119 genomes in the UK Biobank

BV Halldorsson, HP Eggertsson, KHS Moore… - Nature, 2022 - nature.com
Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores

O Weissbrod, M Kanai, H Shi, S Gazal, WJ Peyrot… - Nature Genetics, 2022 - nature.com
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating
health disparities. We propose PolyPred, a method that improves cross-population …

Plasma proteomic associations with genetics and health in the UK Biobank

BB Sun, J Chiou, M Traylor, C Benner, YH Hsu… - Nature, 2023 - nature.com
Abstract The Pharma Proteomics Project is a precompetitive biopharmaceutical consortium
characterizing the plasma proteomic profiles of 54,219 UK Biobank participants. Here we …

The power of genetic diversity in genome-wide association studies of lipids

SE Graham, SL Clarke, KHH Wu, S Kanoni, GJM Zajac… - Nature, 2021 - nature.com
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied
prevalence worldwide owing to different dietary patterns and medication use. Despite …

Improving polygenic prediction in ancestrally diverse populations

Y Ruan, YF Lin, YCA Feng, CY Chen, M Lam, Z Guo… - Nature …, 2022 - nature.com
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As
existing genome-wide association studies (GWAS) have been conducted predominantly in …

Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

N Shrine, AG Izquierdo, J Chen, R Packer, RJ Hall… - Nature …, 2023 - nature.com
Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and
predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of …

Stroke in Africa: profile, progress, prospects and priorities

RO Akinyemi, B Ovbiagele, OA Adeniji… - Nature Reviews …, 2021 - nature.com
Stroke is a leading cause of disability, dementia and death worldwide. Approximately 70% of
deaths from stroke and 87% of stroke-related disability occur in low-income and middle …