ID
45538
Beschrijving
Principal Investigator: Baylor Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA MeSH: Mendelian Conditions,Alstrom Syndrome,Arrhythmogenic Right Ventricular Dysplasia,Syndactyly,Craniofacial Abnormalities,Neurofibromatoses,Ullrich congenital muscular dystrophy,Aortic Aneurysm, Thoracic,Rubinstein-Taybi Syndrome,Acne Inversa,Achondroplasia,Exostoses, Multiple Hereditary,Arthrogryposis, Renal Dysfunction, And Cholestasis,Van Den Ende-Gupta Syndrome,BO Syndrome 3,SMDCRD,Loeys-Dietz Syndrome, Type 1a,Cardiomyopathy, Dilated,OI, Type VI,Sotos Syndrome,Charcot-Marie-Tooth Disease,Microcephaly https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000711 The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.
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Versies (1)
- 29-12-22 29-12-22 - Simon Heim
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Baylor Hopkins Center for Mendelian Genomics, Baylor College of Medicine, Houston, TX, USA
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29 december 2022
DOI
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Creative Commons BY 4.0
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dbGaP phs000711 Baylor Hopkins Center for Mendelian Genomics (BH CMG)
The subject consent data table includes subject IDs and consent information for subjects included in the Baylor Hopkins Center for Mendelian Genomics (BH CMG) study.
- StudyEvent: SEV1
- The subject consent data table includes subject IDs and consent information for subjects included in the Baylor Hopkins Center for Mendelian Genomics (BH CMG) study.
- The pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subject's sex, and monozygotic twin IDs.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotype data table includes subject's ancestry and consanguinity relative to parents.
- This sample attributes data table includes sample analyte type, name of condition, affection status for condition, and corresponding OMIM ID.
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The subject consent data table includes subject IDs and consent information for subjects included in the Baylor Hopkins Center for Mendelian Genomics (BH CMG) study.
- StudyEvent: SEV1
- The subject consent data table includes subject IDs and consent information for subjects included in the Baylor Hopkins Center for Mendelian Genomics (BH CMG) study.
- The pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, subject's sex, and monozygotic twin IDs.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotype data table includes subject's ancestry and consanguinity relative to parents.
- This sample attributes data table includes sample analyte type, name of condition, affection status for condition, and corresponding OMIM ID.
C2348585 (UMLS CUI [1,2])
C0441833 (UMLS CUI [1,2])
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