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Full-Text Articles in Bioinformatics
Missing Heritability And Novel Germline Risk Loci In Hereditary Ovarian Cancer: Insights From Whole Exome Sequencing And Functional Analyses, Jaime Lyn Stafford
Missing Heritability And Novel Germline Risk Loci In Hereditary Ovarian Cancer: Insights From Whole Exome Sequencing And Functional Analyses, Jaime Lyn Stafford
Wayne State University Dissertations
While 25% of ovarian cancer (OVCA) cases are due to inherited factors, most of the genetic risk remains unexplained. This study addressed this gap by identifying previously undescribed OVCA risk loci through the whole exome sequencing (WES) of 48 BRCA1/BRCA2 wild type women diagnosed with OVCA, selected for high risk of genetic inheritance. Five clearly pathogenic variants were identified in this sample, four of which are in two genes featured on current multi-gene panels; (RAD51D, ATM). In addition, a high impact variant in FANCM (R1931*) was identified. FANCM has been recently implicated in familial breast cancer risk but is not …
Qualitative Change Detection Approach For Preventive Therapies, Cristina Mitrea
Qualitative Change Detection Approach For Preventive Therapies, Cristina Mitrea
Wayne State University Dissertations
Currently, most diseases are diagnosed only after disease-associated changes have occurred. In this PhD dissertation, we propose a paradigm shift from treating the disease to maintaining the healthy state. The proposed approach is able to identify when systemic qualitative changes in biological systems happen, thus opening the possibility of therapeutic interventions before the occurrence of symptoms. The change detection method exploits knowledge from biological networks and longitudinal data using a system impact analysis approach. This approach is validated on eight datasets, for seven different model organisms and eight biological phenomena. On these data, our proposed method performs well, consistently identifying …