Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
Results
Showing 1 to 3 of 3 for “"germline variant"”.
-
Germline Genetic Modulator of Cancer Metastasis
… of cancer metastasis. In this thesis, I report a germline genetic driver of breast cancer metastasis, suggesting that germline genetic differences between individuals underlie distinct metastatic outcomes. I identified a common missense germline variant in PCSK9 (rs562556, V474I) that associates …
-
Genetic basis of inherited kidney and related tumours
… recommendations for the molecular investigation, germline variant interpretation and clinical management of patients with syndromic and non-syndromic inherited RCC are suggested. A variety of investigative approaches were utilised for this thesis. Firstly, a service evaluation was undertaken which …
-
Improving quality of high-throughput sequencing reads
… analyzes the effect of sequencing errors on variant calling, which is one of the most important clinical applications for HTS data. For this, the environments for tracing the effect of sequencing errors on germline and somatic variant calling was developed. Using the environment, this …