The promise of digital healthcare technologies

AWK Yeung, A Torkamani, AJ Butte… - Frontiers in Public …, 2023 - frontiersin.org
Digital health technologies have been in use for many years in a wide spectrum of
healthcare scenarios. This narrative review outlines the current use and the future strategies …

Genome-wide polygenic score to predict chronic kidney disease across ancestries

A Khan, MC Turchin, A Patki, V Srinivasasainagendra… - Nature medicine, 2022 - nature.com
Chronic kidney disease (CKD) is a common complex condition associated with high
morbidity and mortality. Polygenic prediction could enhance CKD screening and prevention; …

Getting genetic ancestry right for science and society

ACF Lewis, SJ Molina, PS Appelbaum, B Dauda… - Science, 2022 - science.org
Glaring health disparities have reinvigorated debate about the relevance of race to health,
including how race should and should not be used as a variable in research and …

Mono-and biallelic variant effects on disease at biobank scale

HO Heyne, J Karjalainen, KJ Karczewski, SM Lemmelä… - Nature, 2023 - nature.com
Identifying causal factors for Mendelian and common diseases is an ongoing challenge in
medical genetics. Population bottleneck events, such as those that occurred in the history of …

Germline Mutations in CIDEB and Protection against Liver Disease

N Verweij, ME Haas, JB Nielsen… - … England Journal of …, 2022 - Mass Medical Soc
Background Exome sequencing in hundreds of thousands of persons may enable the
identification of rare protein-coding genetic variants associated with protection from human …

Calibrated prediction intervals for polygenic scores across diverse contexts

K Hou, Z Xu, Y Ding, R Mandla, Z Shi, K Boulier… - Nature …, 2024 - nature.com
Polygenic scores (PGS) have emerged as the tool of choice for genomic prediction in a wide
range of fields. We show that PGS performance varies broadly across contexts and …

Analysis of clinically relevant variants from ancestrally diverse Asian genomes

SH Chan, Y Bylstra, JX Teo, JL Kuan, N Bertin… - Nature …, 2022 - nature.com
Asian populations are under-represented in human genomics research. Here, we
characterize clinically significant genetic variation in 9051 genomes representing East …

Precision public health in the era of genomics and big data

MC Roberts, KE Holt, G Del Fiol, AA Baccarelli… - Nature Medicine, 2024 - nature.com
Precision public health (PPH) considers the interplay between genetics, lifestyle and the
environment to improve disease prevention, diagnosis and treatment on a population level …