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dbGaP phs000744 Yale Center for Mendelian Genomics (Y CMG) - pht003977.v4.p2

- 2022-12-11 - 5 Formulär, 1 Item-grupp, 5 Dataelement, 1 Språk
Item-grupp: pht003977
Principal Investigator: Richard Lifton, Yale University, New Haven, CT, USA MeSH: Familial Idiopathic Pulmonary Fibrosis,Aortic Coarctation,Aortic Stenosis, Supravalvular,Aortic Valve, Bicuspid,Arteries,Blepharophimosis,Bronchiectasis,Carcinoma, Renal Cell,Cardiomyopathies,Ciliary Motility Disorders,Cleft Palate,Congenital Abnormalities,Diaphragmatic Hernia,Ductus Arteriosus, Patent,Gastroschisis,Heart Defects, Congenital,Heart Septal Defects, Atrial,Heart Valve Diseases,Hemangioma,Hereditary Sensory and Autonomic Neuropathies,Hydrocephalus,Hyper-IgM Immunodeficiency Syndrome,Hyperaldosteronism,Hypertension,Ichthyosiform Erythroderma, Congenital,Idiopathic Pulmonary Fibrosis,Lung Diseases, Interstitial,Muscular Atrophy, Spinal,Neuroblastoma,Pneumothorax,Pulmonary Atresia,Pulmonary Valve Stenosis,Rett Syndrome,Spina Bifida,Tetralogy of Fallot,Transposition of Great Vessels,Tricuspid Atresia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000744 Yale University is home to one of three national centers created by the NIH to study the genetics of rare inherited diseases. Researchers at Yale, the University of Washington, and a center operated jointly by Baylor and Johns Hopkins University will analyze the genomes of thousands of patients who suffer from more than 6,000 rare Mendelian disorders affecting more than 25 million individuals in US. The Centers for Mendelian Genomics will apply next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian disorders. The discovery of new genes that cause Mendelian conditions will expand our understanding about their biology to facilitate their diagnosis, and potentially indicate new treatments. The Centers for Mendelian Genomics will provide free exome sequencing and analysis to collaborating investigators for qualified phenotypes. If you are interested in working with the CMG to discover the genetic basis of a Mendelian condition, please contact Yale Center (shrikant.mane@yale.edu) for further information.

pht003978.v4.p2

1 Item-grupp 3 Dataelement

pht003979.v4.p2

1 Item-grupp 7 Dataelement

pht003980.v4.p2

1 Item-grupp 2 Dataelement

pht003976.v4.p2

1 Item-grupp 2 Dataelement

dbGaP phs001052 Multi-Dimensional ClinOmics for Precision Therapy - Eligibility

- 2023-07-09 - 5 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: MeSH: Neoplasms,Sarcoma,Sarcoma, Ewing,Rhabdomyosarcoma,Wilms Tumor,Desmoplastic Small Round Cell Tumor,Carcinoma, Transitional Cell,Rhabdoid Tumor,Sarcoma, Synovial,Neuroblastoma,Neuroendocrine tumors https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001052 The Center for Cancer Research (CCR), of the intramural NCI undertook a multidimensional clinical genomics study of children and adolescent young adults with relapsed and refractory cancers who were enrolled on other therapeutic trials to determine the feasibility of a genome guided precision therapy protocol in these patients.

pht005466.v2.p1

1 Item-grupp 2 Dataelement

pht005467.v2.p1

1 Item-grupp 3 Dataelement

pht005468.v2.p1

1 Item-grupp 3 Dataelement

pht005469.v2.p1

1 Item-grupp 6 Dataelement

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