Biobanks ► Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)






Last Updated: Mar 17, 2016

• Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core).
  Merino-Martinez Roxana et al. Biopreservation and biobanking 2016 Mar
• Merging Electronic Health Record Data and Genomics for Cardiovascular Research: A Science Advisory From the American Heart Association.
  Hall Jennifer L et al. Circulation. Cardiovascular genetics 2016 Mar
• Germline genetics of cancer of unknown primary (CUP) and its specific subtypes.
  Hemminki Kari, et al. Oncotarget 2016 3
• Broad Consent for Genomic Research and Biobanking: Perspectives from Low- and Middle-Income Countries.
  Tindana Paulina et al. Annual review of genomics and human genetics 2016 Feb
• Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.
  Gainotti Sabina et al. European journal of human genetics : EJHG 2016 Feb
• Participant views on consent in cancer genetics research: preparing for the precision medicine era.
  Edwards Karen L et al. Journal of community genetics 2016 Jan
• Identifying public expectations of genetic biobanks.
  Critchley Christine et al. Public understanding of science (Bristol, England) 2016 Jan
• Building the Partners HealthCare Biobank at Partners Personalized Medicine: Informed Consent, Return of Research Results, Recruitment Lessons and Operational Considerations.
  Karlson Elizabeth W et al. Journal of personalized medicine 6(1)
• UK biobank: an open access resource for identifying the causes of a wide range of complex diseases of middle and old age.
  Sudlow Cathie et al. PLoS medicine 2015 Mar 12(3) e1001779
• Biobanks, Data Sharing, and the Drive for a Global Privacy Governance Framework.
  Dove Edward S et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2015 Dec (4) 675-89
• Illinois State Genetics Plan (2007)[PDF 2.04 MB]
  Disease: Multiple Diseases; Type: Policy|Education|Program; State: Illinois
• Connecticut Department of Public Health Genomics Action Plan[PDF 139 KB]
  Disease: Multiple Diseases; Type: Policy|Program; State: Connecticut
• Population-specific genotype imputations using minimac or IMPUTE2.
  van Leeuwen Elisabeth M, et al. Nature protocols 2015 9 (9) 1285-96
• Electronic medical records and genomics (eMERGE) network exploration in cataract: several new potential susceptibility loci.
  Ritchie Marylyn D, et al. Molecular vision 2014 0 1281-95
• Genetic variants associated with serum thyroid stimulating hormone (TSH) levels in European Americans and African Americans from the eMERGE Network.
  Malinowski Jennifer R, et al. PloS one 2014 0 (12) e111301
• Down syndrome: national conference on patient registries, research databases, and biobanks.
  Oster-Granite Mary Lou et al. Mol. Genet. Metab. 104(1-2) 13-22
• Characterization of statin dose response in electronic medical records.
  Wei W-Q, et al. Clinical pharmacology and therapeutics 2014 3 (3) 331-8
• Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.
  Ritchie Marylyn D, et al. Circulation 2013 4 (13) 1377-85
• Predicting warfarin dosage in European-Americans and African-Americans using DNA samples linked to an electronic health record.
  Ramirez Andrea H, et al. Pharmacogenomics 2012 3 (4) 407-18
• The use of a DNA biobank linked to electronic medical records to characterize pharmacogenomic predictors of tacrolimus dose requirement in kidney transplant recipients.
  Birdwell Kelly A, et al. Pharmacogenetics and genomics 2012 1 (1) 32-42
• Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies.
  Denny Joshua C, et al. American journal of human genetics 2011 10 (4) 529-42
• Closure of population biobanks and direct-to-consumer genetic testing companies.
  Zawati Ma'n H, et al. Human genetics 2011 9 (3) 425-32
• Knowledge-Driven Multi-Locus Analysis Reveals Gene-Gene Interactions Influencing HDL Cholesterol Level in Two Independent EMR-Linked Biobanks.
  Turner SD, et al. PloS one 2011 5 (5) 5

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB