ID
46131
Descrizione
Principal Investigator: Scott T. Weiss, MD, MS, Partners HealthCare System, Boston, MA, USA MeSH: Hypercholesterolemia,Asthma,Arthritis, Rheumatoid,Attention Deficit Disorder with Hyperactivity,Bipolar Disorder,Coronary Disease,Depression,Heart Failure,Inflammatory Bowel Diseases,Multiple Sclerosis,Schizophrenia,Stroke https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000944 The Partners HealthCare Biobank is a large research data and sample repository working within the framework of Partners Personalized Medicine. It provides researchers access to high quality, consented samples to help foster research, advance understanding of the causes of common diseases, and advance the practice of medicine. The Partners Biobank provides banked samples (plasma, serum and DNA) collected from consented patients. These samples are available for distribution to Partners HealthCare investigators with appropriate approval from the Partners Institutional Review board (IRB). They are linked to clinical data that originates in the Electronic Medical Record (EMR), as well as additional health information collected in a self-reported survey. The Partners Biobank will be genotyping 25,000 subjects with the Illumina Multiethnic Beadchip 1.6 million SNPs with exome and custom content ( 60,000 LoFs). Of the participants genotyped so far, 4929 of 4962 (99.3%) individuals have genotype data that passed the default quality thresholds for the Infinium array (call rate = 0.99). We are submitting the genotype data to dbGaP for 4929 subjects with 12 phenotypes (based on icd9 codes). We will do annual releases until we reach the full 25,000 genotyped subjects.
collegamento
Keywords
versioni (1)
- 27/11/24 27/11/24 - Dr. Christian Niklas
Titolare del copyright
Scott T. Weiss, MD, MS, Partners HealthCare System, Boston, MA, USA
Caricato su
27 novembre 2024
DOI
Per favore, per richiedere un accesso.
Licenza
Creative Commons BY 4.0
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dbGaP phs000944 eMERGE Clinical Center at Partners HealthCare
Eligibility Criteria
- StudyEvent: eMERGE Phase III Clinical Center at Partners HealthCare
- Eligibility Criteria
- Subject - Consent Information
- Subject - Sample Mapping
- The dataset provides information about ICD9 codes used for searching the electronic medical record databases, and the corresponding medical diagnoses. Included are: Asthma, attention deficit hyperactivity disorder, bipolar disease, coronary heart disease, congestive heart failure, depression, hypercholesterolemia, inflammatory bowel disease, multiple sclerosis, rheumatoid arthritis, schizophrenia, stroke, plus height/weight mdata, and sociodemographic information.
- Sample - Attribute Information
- Pedigree Information
Similar models
Eligibility Criteria
- StudyEvent: eMERGE Phase III Clinical Center at Partners HealthCare
- Eligibility Criteria
- Subject - Consent Information
- Subject - Sample Mapping
- The dataset provides information about ICD9 codes used for searching the electronic medical record databases, and the corresponding medical diagnoses. Included are: Asthma, attention deficit hyperactivity disorder, bipolar disease, coronary heart disease, congestive heart failure, depression, hypercholesterolemia, inflammatory bowel disease, multiple sclerosis, rheumatoid arthritis, schizophrenia, stroke, plus height/weight mdata, and sociodemographic information.
- Sample - Attribute Information
- Pedigree Information
C0205476 (UMLS CUI [1,2])
C0021708 (UMLS CUI [1,2])
C0022864 (UMLS CUI [1,2])
C0205374 (UMLS CUI [1,2])
C0231190 (UMLS CUI [2,1])
C0205355 (UMLS CUI [2,2])
C3840745 (UMLS CUI [1,2])
C0035173 (UMLS CUI [1,2])
C0206512 (UMLS CUI [1,2])
C0021430 (UMLS CUI [1,2])
C0200345 (UMLS CUI [1,3])