Year: 2018
Type: dissertation
Abstract: Improper repair of double stranded breaks in the genome can cause structural variants. As technology continues to advance, these events are identified with increasing resolution. Indeed the introduction of long read sequencing identified new structural variants not previously seen in a variety of cancers. Long read sequencing was performed on two cancer types: nine Group 4 medulloblastoma samples and two PF-A ependymoma samples. This has led to the identification of numerous somatic and germline structural variants in both types of cancer. A germline insertion near the amyloid beta precursor protein (APP) gene was seen across all samples of Group 4 medulloblastoma, with the event not called by short read sequencing. Long reads aided in an improved assembly of the tumour and normal genomes, which were used to validate certain structural variants. Genome doubling events also seemed to be enriched in Group 4 medulloblastoma.
Source: TSpace (University of Toronto)
Author: Hamza Farooq
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W3153541255