Suchergebnisse - Portal für Medizinische Datenmodelle (MDM-Portal)

Suchergebnisse filtern
Datenmodelle auswählen

Ausgewählte Datenmodelle

Sie müssen eingeloggt sein, um mehrere Datenmodelle auszuwählen und diese herunterzuladen oder zu analysieren.

2 Suchergebnisse.

dbGaP phs000944 eMERGE Clinical Center at Partners HealthCare - Eligibility

- 27.11.24 - 6 Formulare, 2 Itemgruppen, 11 Datenelemente, 1 Sprache

Itemgruppen: 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 Itemgruppe 5 Datenelemente

pht005288.v1.p1

1 Itemgruppe 6 Datenelemente

pht004844.v1.p1

1 Itemgruppe 2 Datenelemente

pht004845.v1.p1

1 Itemgruppe 3 Datenelemente

pht004846.v1.p1

1 Itemgruppe 18 Datenelemente

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

- 09.03.24 - 6 Formulare, 1 Itemgruppe, 6 Datenelemente, 1 Sprache

Itemgruppe: 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 Itemgruppe 6 Datenelemente

pht004440.v1.p1

1 Itemgruppe 5 Datenelemente

Eligibility

1 Itemgruppe 2 Datenelemente

pht004438.v1.p1

1 Itemgruppe 5 Datenelemente

pht004439.v1.p1

1 Itemgruppe 5 Datenelemente

Benutzen Sie dieses Formular für Rückmeldungen, Fragen und Verbesserungsvorschläge.

Benötigen Sie Hilfe bei der Suche? Um mehr Details zu erfahren und die Suche effektiver nutzen zu können schauen Sie sich doch das entsprechende Video auf unserer Tutorial Seite an.