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dbGaP phs001272 Broad Institute Center for Mendelian Genomics - Eligibility

- 4/15/23 - 6 forms, 1 itemgroup, 9 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Daniel G. MacArthur, Broad Institute, Cambridge, MA, USA MeSH: Genetic Diseases, Inborn,Bardet-Biedl Syndrome,Blepharoptosis,Chorea,Ciliopathies,Coffin-Siris Syndrome,Congenital Abnormalities,Craniofacial Abnormalities,Developmental Disabilities,Growth Disorders,Hearing Loss, Sensorineural,Hypertelorism,Intellectual disability,Kidney Diseases,Lung Diseases, Interstitial,Macular Degeneration,Muscular Diseases,Neurodegenerative Diseases,Neurodevelopmental Disorders,Nervous System Malformations,Night Blindness,Retinal Degeneration,Retinitis Pigmentosa,Seizures,Spastic Paraplegia, Hereditary,Usher Syndromes https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001272 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.

pht007302.v1.p1

1 itemgroup 2 items

pht007300.v1.p1

1 itemgroup 4 items

pht007303.v1.p1

1 itemgroup 4 items

pht007304.v1.p1

1 itemgroup 2 items

pht007301.v1.p1

1 itemgroup 7 items

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