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 …

[HTML][HTML] Mendelian randomization for studying the effects of perturbing drug targets

D Gill, MK Georgakis, VM Walker… - Wellcome open …, 2021 - ncbi.nlm.nih.gov
Drugs whose targets have genetic evidence to support efficacy and safety are more likely to
be approved after clinical development. In this paper, we provide an overview of how natural …

Exploring diseases/traits and blood proteins causally related to expression of ACE2, the putative receptor of SARS-CoV-2: a Mendelian randomization analysis …

S Rao, A Lau, HC So - Diabetes care, 2020 - Am Diabetes Assoc
OBJECTIVE COVID-19 has become a major public health problem. There is good evidence
that ACE2 is a receptor for SARS-CoV-2, and high expression of ACE2 may increase …

High-throughput phenotyping for crop improvement in the genomics era

RR Mir, M Reynolds, F Pinto, MA Khan, MA Bhat - Plant Science, 2019 - Elsevier
Tremendous progress has been made with continually expanding genomics technologies to
unravel and understand crop genomes. However, the impact of genomics data on crop …

Pleiotropy in complex traits: challenges and strategies

N Solovieff, C Cotsapas, PH Lee, SM Purcell… - Nature Reviews …, 2013 - nature.com
Genome-wide association studies have identified many variants that each affects multiple
traits, particularly across autoimmune diseases, cancers and neuropsychiatric disorders …

Network‐based approaches in pharmacology

B Boezio, K Audouze, P Ducrot… - Molecular …, 2017 - Wiley Online Library
In drug discovery, network‐based approaches are expected to spotlight our understanding
of drug action across multiple layers of information. On one hand, network pharmacology …

International consensus statement on obstructive sleep apnea

JL Chang, AN Goldberg, JA Alt… - International forum of …, 2023 - Wiley Online Library
Background Evaluation and interpretation of the literature on obstructive sleep apnea (OSA)
allows for consolidation and determination of the key factors important for clinical …

Unravelling the human genome–phenome relationship using phenome-wide association studies

WS Bush, MT Oetjens, DC Crawford - Nature Reviews Genetics, 2016 - nature.com
Advances in genotyping technology have, over the past decade, enabled the focused
search for common genetic variation associated with human diseases and traits. With the …

MultiPhen: joint model of multiple phenotypes can increase discovery in GWAS

PF O'Reilly, CJ Hoggart, Y Pomyen, FCF Calboli… - PloS one, 2012 - journals.plos.org
The genome-wide association study (GWAS) approach has discovered hundreds of genetic
variants associated with diseases and quantitative traits. However, despite clinical overlap …

[HTML][HTML] Secondary use of clinical data: the Vanderbilt approach

I Danciu, JD Cowan, M Basford, X Wang, A Saip… - Journal of biomedical …, 2014 - Elsevier
The last decade has seen an exponential growth in the quantity of clinical data collected
nationwide, triggering an increase in opportunities to reuse the data for biomedical research …