ID
45502
Description
Principal Investigator: Haig H. Kazazian, Jr, MD, Johns Hopkins University, Baltimore MD, USA MeSH: Colonic Neoplasms,Health https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000536 The purpose of this study is to ascertain the locations of somatic LINE-1 retrotransposition events in human colon tumor samples by pooling multiple tumor samples from different patients and performing a targeted resequencing assay (Ewing and Kazazian, Genome Research 2010) to sequence the 3' flanking regions of all insertions in the pooled sample. The result is compared to the result of applying the same method to pooled normal samples from the same patients as were used in the pooled tumor sample and selecting sites that show an insertion in the tumor but not in the normaltissue and do not correspond to any known non-reference LINE-1 insertion allele. The selected sites are then validated by site-specific PCR and capillary sequencing to confirm that they represent LINE-1 insertions and to obtain breakpoint sequences.
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Versions (2)
- 02/11/2022 02/11/2022 - Simon Heim
- 13/12/2022 13/12/2022 - Kristina Keller
Détendeur de droits
Haig H. Kazazian, Jr, MD, Johns Hopkins University, Baltimore MD, USA
Téléchargé le
13 décembre 2022
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs000536 Retrotransposition in Colorectal Cancer
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, source subject ID, consent group, affection status, and pooled subject IDs of participants with or without colorectal tumors and involved in the "Somatic L1 Retrotransposition in Colorectal Tumors" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable of participants with or without colorectal tumors and involved in the "Somatic L1 Retrotransposition in Colorectal Tumors" project.
- Subject ID, gender, age, documented metastases, number of somatic L1 insertions detected, microsatellite instability, tumor status of sample, organism, tissue, biomaterial provider, sample isolation of participants with or without colorectal tumors and involved in the "Somatic L1 Retrotransposition in Colorectal Tumors" project.
- Subject ID and pooled subject IDs of participants with or without colorectal tumors and involved in the "Somatic L1 Retrotransposition in Colorectal Tumors" project.
- Sample ID, number of subjects pooled into sample, analyte type, tumor status, and cell or tissue type or subtype of sample of participants with or without colorectal tumors and involved in the "Somatic L1 Retrotransposition in Colorectal Tumors" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, source subject ID, consent group, affection status, and pooled subject IDs of participants with or without colorectal tumors and involved in the "Somatic L1 Retrotransposition in Colorectal Tumors" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable of participants with or without colorectal tumors and involved in the "Somatic L1 Retrotransposition in Colorectal Tumors" project.
- Subject ID, gender, age, documented metastases, number of somatic L1 insertions detected, microsatellite instability, tumor status of sample, organism, tissue, biomaterial provider, sample isolation of participants with or without colorectal tumors and involved in the "Somatic L1 Retrotransposition in Colorectal Tumors" project.
- Subject ID and pooled subject IDs of participants with or without colorectal tumors and involved in the "Somatic L1 Retrotransposition in Colorectal Tumors" project.
- Sample ID, number of subjects pooled into sample, analyte type, tumor status, and cell or tissue type or subtype of sample of participants with or without colorectal tumors and involved in the "Somatic L1 Retrotransposition in Colorectal Tumors" project.
C0009404 (UMLS CUI [1,2])
C0205117 (UMLS CUI [1,3])
C0586713 (UMLS CUI [1,4])
C1516698 (UMLS CUI [1,5])
C0549433 (UMLS CUI [1,6])
C1519800 (UMLS CUI [1,7])
C0009932 (UMLS CUI [2,1])
C0040278 (UMLS CUI [2,2])
C0459385 (UMLS CUI [2,3])
C0586688 (UMLS CUI [2,4])
C0242202 (UMLS CUI [2,5])
C1292533 (UMLS CUI [2,6])