ID
45654
Description
Principal Investigator: Michael Snyder, PhD, Stanford University, Stanford, CA, USA MeSH: Colitis, Ulcerative https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001251 Genetic risk factors for ulcerative colitis are not well understood. We performed a family-based whole exome sequencing analysis to identify potential causal mutations. In the proband, we found a heterozygous de novo mutation in the gene HSPA1L. Our results indicate that the de novo mutation in HSPA1L is associated with ulcerative colitis.
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Mots-clés
Versions (1)
- 21/03/2023 21/03/2023 - Simon Heim
Détendeur de droits
Michael Snyder, PhD, Stanford University, Stanford, CA, USA
Téléchargé le
21 mars 2023
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs001251 Family-Based Study on Ulcerative Colitis with Whole Exome Sequencing
The subject consent file includes subject IDs, consent information, and case control status of the subject for ulcerative colitis.
- StudyEvent: SEV1
- The subject consent file includes subject IDs, consent information, and case control status of the subject for ulcerative colitis.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, and sex.
- 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 use.
- This subject phenotype table contains subject IDs, disease onset age, sex, and affection status for ulcerative colitis.
- This sample attributes table contains sample IDs, analyte type, and name of the center which conducted sequencing.
Similar models
The subject consent file includes subject IDs, consent information, and case control status of the subject for ulcerative colitis.
- StudyEvent: SEV1
- The subject consent file includes subject IDs, consent information, and case control status of the subject for ulcerative colitis.
- The subject pedigree table contains family ID, subject ID, mother ID, father ID, and sex.
- 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 use.
- This subject phenotype table contains subject IDs, disease onset age, sex, and affection status for ulcerative colitis.
- This sample attributes table contains sample IDs, analyte type, and name of the center which conducted sequencing.
C0441833 (UMLS CUI [1,2])
C0242481 (UMLS CUI [1,2])