Methods of integrating data to uncover genotype–phenotype interactions

MD Ritchie, ER Holzinger, R Li… - Nature Reviews …, 2015 - nature.com
Recent technological advances have expanded the breadth of available omic data, from
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic …

The electronic medical records and genomics (eMERGE) network: past, present, and future

O Gottesman, H Kuivaniemi, G Tromp, WA Faucett… - Genetics in …, 2013 - nature.com
Abstract The Electronic Medical Records and Genomics Network is a National Human
Genome Research Institute–funded consortium engaged in the development of methods …

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

AF Pardiñas, P Holmans, AJ Pocklington… - Nature …, 2018 - nature.com
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …

Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations

MG Hayes, M Urbanek, DA Ehrmann… - Nature …, 2015 - nature.com
Polycystic ovary syndrome (PCOS) is a common, highly heritable complex disorder of
unknown aetiology characterized by hyperandrogenism, chronic anovulation and defects in …

Molecular genetic testing and the future of clinical genomics

SH Katsanis, N Katsanis - Nature Reviews Genetics, 2013 - nature.com
Genomic technologies are reaching the point of being able to detect genetic variation in
patients at high accuracy and reduced cost, offering the promise of fundamentally altering …

Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis

CJ Rhodes, K Batai, M Bleda, M Haimel… - The Lancet …, 2019 - thelancet.com
Background Rare genetic variants cause pulmonary arterial hypertension, but the
contribution of common genetic variation to disease risk and natural history is poorly …

[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 …

Design and anticipated outcomes of the eMERGE‐PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems

LJ Rasmussen‐Torvik, SC Stallings… - Clinical …, 2014 - Wiley Online Library
We describe here the design and initial implementation of the eMERGE‐PGx project.
eMERGE‐PGx, a partnership of the Electronic Medical Records and Genomics Network and …

GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network

B Namjou, T Lingren, Y Huang, S Parameswaran… - BMC medicine, 2019 - Springer
Background Non-alcoholic fatty liver disease (NAFLD) is a common chronic liver illness with
a genetically heterogeneous background that can be accompanied by considerable …

Imputation and quality control steps for combining multiple genome-wide datasets

SS Verma, M de Andrade, G Tromp… - Frontiers in …, 2014 - frontiersin.org
The electronic MEdical Records and GEnomics (eMERGE) network brings together DNA
biobanks linked to electronic health records (EHRs) from multiple institutions. Approximately …