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- Study Description
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Important Links and Information
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Request access via Authorized Access
- Instructions for requestors
- Data Use Certification (DUC) Agreement
- Talking Glossary of Genetic Terms
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.
- Study Weblinks:
- Study Design:
- Mendelian
- Study Type:
- Mixed
- dbGaP estimated ancestry using GRAF-pop
- Total number of consented subjects: 283
- Subject Sample Telemetry Report (SSTR)
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Request access via Authorized Access
- Authorized Access
- Publicly Available Data
- Molecular Data
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Type Source Platform Number of Oligos/SNPs SNP Batch Id Comment Whole Exome Sequencing Illumina HiSeq 2000 N/A N/A v1, v2, v3 Whole Exome Sequencing Illumina HiSeq 2500 N/A N/A TruSeq Rapid PE Exome Capture Roche NimbleGen HGSC-Core; HGSC-VCRome N/A N/A Custom Exome Capture Agilent SureSelect HumanAllExonV4_51MbKit_S03723314 N/A N/A - Selected Publications
- Diseases/Traits Related to Study (MeSH terms)
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- Primary Phenotype: 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
- Authorized Data Access Requests
- Study Attribution
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Sequencing Centers
- Baylor Hopkins Center for Mendelian Genomics. Baylor College of Medicine, Houston, TX, USA.
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Principal Investigators
- David Valle, MD. Johns Hopkins School of Medicine, Baltimore, MD, USA.
- James Lupski, MD, PhD. Baylor College of Medicine, Houston, TX, USA.
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Funding Sources
- 1U54HG006542. National Human Genome Research Institute and National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
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Sequencing Centers