Sökresultat - Portal för medicinska datamodeller (MDM-portal)

Filtrera sökresultat
Välj datamodell

Valda datamodeller

Du måste vara inloggad för att välja flera datamodeller, ladda ner dem eller analysera dem.

2 Sökresultat.

dbGaP phs000944 eMERGE Clinical Center at Partners HealthCare - Eligibility

- 27.11.24 - 6 Formulär, 2 Item-grupper, 11 Dataelement, 1 Språk

Item-grupper: IG.elig, IG.elig

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.

pht004847.v1.p1

1 Item-grupp 5 Dataelement

pht005288.v1.p1

1 Item-grupp 6 Dataelement

pht004844.v1.p1

1 Item-grupp 2 Dataelement

pht004845.v1.p1

1 Item-grupp 3 Dataelement

pht004846.v1.p1

1 Item-grupp 18 Dataelement

dbGaP phs000837 Whole Genome Sequencing of Two 22q11DS Trios - pht004442.v1.p1

- 09.03.24 - 6 Formulär, 1 Item-grupp, 6 Dataelement, 1 Språk

Item-grupp: pht004442

Principal Investigator: Bernice Morrow, PhD, Albert Einstein College of Medicine, Bronx, NY, USA MeSH: Tetralogy of Fallot,Psychotic Disorders,Schizophrenia,Arthritis, Juvenile https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000837 Two subjects with 22q11.2 deletion syndromes (22q11DS) and their parents were recruited for a whole genome sequencing study to identify candidate genetic modifiers of the various phenotypes seen in 22q11DS. Both probands had a typical 3 megabase deletion on chromosome 22q11.2 but discordant phenotypes.

pht004441.v1.p1

1 Item-grupp 6 Dataelement

pht004440.v1.p1

1 Item-grupp 5 Dataelement

Eligibility

1 Item-grupp 2 Dataelement

pht004438.v1.p1

1 Item-grupp 5 Dataelement

pht004439.v1.p1

1 Item-grupp 5 Dataelement

Använd detta formulär för feedback, frågor och förslag på förbättringar.

Do you need help on how to use the search function? Please watch the corresponding tutorial video for more details and learn how to use the search function most efficiently.