Using phecodes for research with the electronic health record: from PheWAS to PheRS

L Bastarache - Annual review of biomedical data science, 2021 - annualreviews.org
Electronic health records (EHRs) are a rich source of data for researchers, but extracting
meaningful information out of this highly complex data source is challenging. Phecodes …

Large-scale genome-wide association study of coronary artery disease in genetically diverse populations

C Tcheandjieu, X Zhu, AT Hilliard, SL Clarke… - Nature medicine, 2022 - nature.com
We report a genome-wide association study (GWAS) of coronary artery disease (CAD)
incorporating nearly a quarter of a million cases, in which existing studies are integrated with …

Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis

AK Schalkamp, KJ Peall, NA Harrison, C Sandor - Nature Medicine, 2023 - nature.com
Parkinson's disease is a progressive neurodegenerative movement disorder with a long
latent phase and currently no disease-modifying treatments. Reliable predictive biomarkers …

A generalized linear mixed model association tool for biobank-scale data

L Jiang, Z Zheng, H Fang, J Yang - Nature genetics, 2021 - nature.com
Compared with linear mixed model-based genome-wide association (GWA) methods,
generalized linear mixed model (GLMM)-based methods have better statistical properties …

Assessment of electronic health record for cancer research and patient care through a sco** review of cancer natural language processing

L Wang, S Fu, A Wen, X Ruan, H He, S Liu… - JCO Clinical Cancer …, 2022 - ascopubs.org
PURPOSE The advancement of natural language processing (NLP) has promoted the use
of detailed textual data in electronic health records (EHRs) to support cancer research and …

Sleep patterns and risk of chronic disease as measured by long-term monitoring with commercial wearable devices in the All of Us Research Program

NS Zheng, J Annis, H Master, L Han, K Gleichauf… - Nature Medicine, 2024 - nature.com
Poor sleep health is associated with increased all-cause mortality and incidence of many
chronic conditions. Previous studies have relied on cross-sectional and self-reported survey …

Rare and common genetic determinants of metabolic individuality and their effects on human health

P Surendran, ID Stewart, VPW Au Yeung, M Pietzner… - Nature Medicine, 2022 - nature.com
Garrod's concept of 'chemical individuality'has contributed to comprehension of the
molecular origins of human diseases. Untargeted high-throughput metabolomic …

TP53-mediated clonal hematopoiesis confers increased risk for incident atherosclerotic disease

SM Zekavat, V Viana-Huete, N Matesanz… - Nature cardiovascular …, 2023 - nature.com
Somatic mutations in blood indicative of clonal hematopoiesis of indeterminate potential
(CHIP) are associated with an increased risk of hematologic malignancy, coronary artery …

An atlas of genetic scores to predict multi-omic traits

Y Xu, SC Ritchie, Y Liang, PRHJ Timmers, M Pietzner… - Nature, 2023 - nature.com
The use of omic modalities to dissect the molecular underpinnings of common diseases and
traits is becoming increasingly common. But multi-omic traits can be genetically predicted …

Leveraging electronic health records and knowledge networks for Alzheimer's disease prediction and sex-specific biological insights

AS Tang, KP Rankin, G Cerono, S Miramontes, H Mills… - Nature Aging, 2024 - nature.com
Identification of Alzheimer's disease (AD) onset risk can facilitate interventions before
irreversible disease progression. We demonstrate that electronic health records from the …