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 …
whole-genome sequencing data, to extensive transcriptomic, methylomic and metabolomic …
The electronic medical records and genomics (eMERGE) network: past, present, and future
Abstract The Electronic Medical Records and Genomics Network is a National Human
Genome Research Institute–funded consortium engaged in the development of methods …
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
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 …
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 …
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 …
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 …
contribution of common genetic variation to disease risk and natural history is poorly …
[HTML][HTML] Secondary use of clinical data: the Vanderbilt approach
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 …
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 …
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 …
a genetically heterogeneous background that can be accompanied by considerable …
Imputation and quality control steps for combining multiple genome-wide datasets
The electronic MEdical Records and GEnomics (eMERGE) network brings together DNA
biobanks linked to electronic health records (EHRs) from multiple institutions. Approximately …
biobanks linked to electronic health records (EHRs) from multiple institutions. Approximately …