ID
45198
Description
Principal Investigator: Adam Bass, Broad Institute, Cambridge MA, Dana Farber Cancer Institute, Boston, MA, USA MeSH: Adenocarcinoma,Colonic Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000374 This study was the first-known effort to complete the complete genome sequencing of primary colorectal adenocarcinomas and the matched germline genome. Nine colorectal adenocarcinomas selected on the basis of having chromosomal instability were subjected to 'shotgun' Illumina sequencing with 101-bp paired end reads to an approximate goal of 30x coverage of tumor and of normal. From these sequences, we used various computational techniques to identify somatic point mutations, insertion/deletions and structural rearrangements in these tumors. From these data, we identified new insights into the rates of background mutations in these cancers, new spectrums of structural alterations including the identification of a novel in-frame fusion gene.
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Versions (2)
- 8/18/22 8/18/22 - Simon Heim
- 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder
Adam Bass, Broad Institute, Cambridge MA, Dana Farber Cancer Institute, Boston, MA, USA
Uploaded on
October 12, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000374 Genomic Sequencing of Colorectal Adenocarcinomas
This data table contains subject IDs and consent group information.
- StudyEvent: SEV1
- This data table contains subject IDs and consent group information.
- This data table contains mapping of study subject IDs to sample IDs.
- This subject phenotype table includes sociodemography variables (n=4 variables; participant's country, gender, race and year of birth), physical observations (n=3 variables; participant's age, age at diagnosis, and primary disease), CEA laboratory measurements, and treatment status (n=2 variables; chemotherapy and radiation therapy).
- This sample attributes table includes variables indicating the tumor/normal status, the body site where samples were collected, stage of cancer, tumor type, comments on tissue from the BSP path, and estimated percentage of nucleated cells (n=4 variables; tumor percent, fibroblast and vessel percent, inflammation percent and necrosis percent).
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This data table contains subject IDs and consent group information.
- StudyEvent: SEV1
- This data table contains subject IDs and consent group information.
- This data table contains mapping of study subject IDs to sample IDs.
- This subject phenotype table includes sociodemography variables (n=4 variables; participant's country, gender, race and year of birth), physical observations (n=3 variables; participant's age, age at diagnosis, and primary disease), CEA laboratory measurements, and treatment status (n=2 variables; chemotherapy and radiation therapy).
- This sample attributes table includes variables indicating the tumor/normal status, the body site where samples were collected, stage of cancer, tumor type, comments on tissue from the BSP path, and estimated percentage of nucleated cells (n=4 variables; tumor percent, fibroblast and vessel percent, inflammation percent and necrosis percent).