Development of a Large‐Scale De‐Identified DNA Biobank to Enable Personalized Medicine

By D. Roden, J. Pulley, M. Basford, GR Bernard, EW Clayton, J. Balser, D. Masys. Clinical pharmacology and therapy, 2008

966 citations recorded by the source corpus.

Subfields: Cancer Research, Genetics, Public Health, Environmental and Occupational Health

View Paper: https://www.semanticscholar.org/paper/cf7352dddf9dbce6949ecdcb771d26b0c3b5bfa2

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Citations in the corpus

Genome- and Phenome-Wide Analysis of Cardiac Conduction Identifies Markers of Arrhythmia Risk (2013, methodology): “The final algorithm was applied in BioVU, the Vanderbilt DNA databank that links DNA extracted from discarded blood samples to the Synthetic Derivative.7 Patients at Vanderbilt were genotyped specifically for the purpose of studying normal QRS duration.”
Computational Phenotype Discovery Using Unsupervised Feature Learning over Noisy, Sparse, and Irregular Clinical Data (2013, methodology): “After obtaining IRB approval, we extracted all necessary data from Vanderbilt’s Synthetic Derivative, a deidentified mirror of our production EMR [38].”
The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies (2011, methodology): “Details of the sys-tem, including the methods of sample accrual, deidenti-fication of patient records, and extensive internal and external review that the project continues to undergo, have been published elsewhere [22].”
Extracting research-quality phenotypes from electronic health records to support precision medicine (2015, methodology): “Some EHRs include the consent and information necessary to re-contact individuals [121,122] while others do not [123].”
New Models for Large Prospective Studies: Is There a Better Way? (2012, neutral): “Large cohorts recruited at a single site, often through a dominant regional health-care provider, represent another approach (6, 7).”
Phenotyping Adverse Drug Reactions: Statin-Related Myotoxicity (2015, methodology): “Gold Standard Development We selected 300 deidentified electronic medical records: BioVU.16 All individuals to have at least one mention of a statin (see Table 1) as defined using the NLP tool MedEx17 in the problem list or a history and physical note.”
Anonymization of electronic medical records for validating genome-wide association studies (2010, methodology): “We evaluated our approach with two sets of patient records derived from a deidentified version of the Vanderbilt University Medical Center EMR system (13).”
Biobanks - A Source of Large Biological Data Sets: Open Problems and Future Challenges (2014, methodology): “They developed also algorithms for sample handling and procedures for de-identification and validated them in order to ensure acceptable error rates [26].”
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations (2010, background): “The growth of available genomic data, some of which is linked to rich phenotypic data such as that which is available in EMR systems, suggests it would be possible to perform a ‘reverse GWAS’—determining, for a given genotype, the range of associated clinical phenotypes.”
Mining electronic health records: towards better research applications and clinical care (2012, methodology): “Sanction for the use of EHR data in research in anonymous form is obtained as part of the standard treatment consent form 75 .”