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 …

Membranous nephropathy

P Ronco, L Beck, H Debiec, FC Fervenza… - Nature reviews Disease …, 2021 - nature.com
Membranous nephropathy (MN) is a glomerular disease that can occur at all ages. In adults,
it is the most frequent cause of nephrotic syndrome. In~ 80% of patients, there is no …

Phenome-wide association studies

L Bastarache, JC Denny, DM Roden - Jama, 2022 - jamanetwork.com
Genome-wide association studies (GWAS) have made clear that single-nucleotide variants
(SNVs) that occur at multiple locations acrossthegenomecanbeassociatedwithasp…, also …

Metabolic coessentiality mapping identifies C12orf49 as a regulator of SREBP processing and cholesterol metabolism

EC Bayraktar, K La, K Karpman, G Unlu… - Nature …, 2020 - nature.com
Coessentiality mapping has been useful to systematically cluster genes into biological
pathways and identify gene functions,–. Here, using the debiased sparse partial correlation …

Best practices for multi-ancestry, meta-analytic transcriptome-wide association studies: lessons from the Global Biobank Meta-analysis Initiative

A Bhattacharya, JB Hirbo, D Zhou, W Zhou, J Zheng… - Cell genomics, 2022 - cell.com
Summary The Global Biobank Meta-analysis Initiative (GBMI), through its diversity, provides
a valuable opportunity to study population-wide and ancestry-specific genetic associations …

Integration of genomics and transcriptomics predicts diabetic retinopathy susceptibility genes

AD Skol, SC Jung, AM Sokovic, S Chen, S Fazal… - Elife, 2020 - elifesciences.org
We determined differential gene expression in response to high glucose in lymphoblastoid
cell lines derived from matched individuals with type 1 diabetes with and without retinopathy …

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

G Unlu, X Qi, ER Gamazon, DB Melville, N Patel… - Nature medicine, 2020 - nature.com
Discovery of genotype–phenotype relationships remains a major challenge in clinical
medicine. Here, we combined three sources of phenotypic data to uncover a new …

Changes in ADAR RNA editing patterns in CMV and ZIKV congenital infections

B Wales-McGrath, H Mercer, H Piontkivska - BMC genomics, 2023 - Springer
Background RNA editing is a process that increases transcriptome diversity, often through
Adenosine Deaminases Acting on RNA (ADARs) that catalyze the deamination of …

The genetic architecture of meat quality traits in a crossbred commercial pig population

Z Zhuang, J Wu, C Xu, D Ruan, Y Qiu, S Zhou, R Ding… - Foods, 2022 - mdpi.com
Meat quality is of importance in consumer acceptance and purchasing tendency of pork.
However, the genetic architecture of pork meat quality traits remains elusive. Herein, we …

Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation

VL Faro, A Bhattacharya, W Zhou, D Zhou, Y Wang… - Cell Reports …, 2024 - cell.com
Primary open-angle glaucoma (POAG), a leading cause of irreversible blindness globally,
shows disparity in prevalence and manifestations across ancestries. We perform meta …