ID
45654
Descripción
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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Versiones (1)
- 21/3/23 21/3/23 - Simon Heim
Titular de derechos de autor
Michael Snyder, PhD, Stanford University, Stanford, CA, USA
Subido en
21 de marzo de 2023
DOI
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Licencia
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.
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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])