WGS of peripheral blood leukocytes from patients with Li-Fraumeni syndrome
We performed whole genome sequencing on 84 LFS family members from 47 families: 22 with wildtype TP53 and 62 with variant TP53. The variant TP53 cohort consists of 49 individuals who developed cancer and 13 individuals who remain cancer-free; 34 were from 13 families with 2-4 individuals sequenced within a given family and the remaining 28 had no family members sequenced. The wildtype cohort consists of 14 individuals who developed cancer and 8 individuals who are cancer-free, from 6 families.
- 80 samples
- DAC: EGAC00001003154
- Technology: HiSeq X Ten
LFS Data Access Policy: Data access will be limited to approved study personnel and collaborators who are given permission to access specific samples or data. Ethically, all study personnel will be approved by the SickKids REB to work on the study.
Access to data will only be granted for studies that have received external scientific peer-reviewed funding, as a measure of scientific merit, technical feasibility, statistical power, and available resources. The release of samples/data to investigators outside of Sickkids will require a material transfer agreement and ethics board approval. Submission of a written request for access to data; detailed explanation and rationale for the type and quantity of material needed, and plans for proposed disposition of any excess materials are requested (return of excess materials or destruction by 7 years after completion of the study). PHIPA compliance or stricter, regardless of jurisdiction will apply to all data. In the event of research findings and other study data being requested by the courts or being placed in a Federal or public data repository, any information that could identify the participant will be removed and the information will be labeled with a new number that is different from the study number and cannot be linked back
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
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