ID
45621
Descripción
Principal Investigator: Anthony Antonellis, PhD, University of Michigan Medical School, Ann Arbor, MI, USA MeSH: Inherited Peripheral Neuropathy https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001351 *Identification of genes implicated in inherited neuropathy through collecting and sequencing multiple generation families with inherited neuropathy.* Patients in this study have been evaluated for demyelinating peripheral neuropathy as determined by decreased motor nerve conduction velocities in the sural nerve. Patients have also been screened for mutations in all genes implicated in demyelinating peripheral neuropathy and are expected to have previously unidentified mutations. *Exome (WES) sequencing for two patients affected with inherited neuropathy.* VCF files with called variants for each de-identified patient have been submitted.
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Versiones (1)
- 27/2/23 27/2/23 - Simon Heim
Titular de derechos de autor
Anthony Antonellis, PhD, University of Michigan Medical School, Ann Arbor, MI, USA
Subido en
27 de febrero de 2023
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs001351 Research Study into The Molecular Genetics of Hereditary Neuropathies
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject source, and case control status of the subject for peripheral neuropathy.
- This data table contains 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. The data table also includes sample source.
- This sample attributes table contains sample IDs, body site, analyte type, tumor status, histological type, and name of the center which conducted sequencing.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject source, and case control status of the subject for peripheral neuropathy.
- This data table contains 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. The data table also includes sample source.
- This sample attributes table contains sample IDs, body site, analyte type, tumor status, histological type, and name of the center which conducted sequencing.
C0680251 (UMLS CUI [1,2])
C0237401 (UMLS CUI [1,2])