ID
45454
Description
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.
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Versions (1)
- 12/11/22 12/11/22 - Chiara Middel
Copyright Holder
Richard Lifton, Yale University, New Haven, CT, USA
Uploaded on
December 11, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000744 Yale Center for Mendelian Genomics (Y CMG)
Pedigree Information
- StudyEvent: SEV1
- Subject - Consent Information
- Pedigree Information
- Subject - Sample Mapping
- The dataset provides diagnosis information, associated OMIM IDs and general sociodemographic information. Study version 4 makes available exome sequence and/or .vcf data of n=1896 subjects (plus SNP array data of one subject with seven samples, and pedigree data).
- Sample - Attribute Information
Similar models
Pedigree Information
- StudyEvent: SEV1
- Subject - Consent Information
- Pedigree Information
- Subject - Sample Mapping
- The dataset provides diagnosis information, associated OMIM IDs and general sociodemographic information. Study version 4 makes available exome sequence and/or .vcf data of n=1896 subjects (plus SNP array data of one subject with seven samples, and pedigree data).
- Sample - Attribute Information
C2348184 (UMLS CUI [1,2])
C0030761 (UMLS CUI [1,2])
C4684638 (UMLS CUI [1,3])
C0030761 (UMLS CUI [1,2])
C4684638 (UMLS CUI [1,3])