Date

2022-11-29

Author

Yazar, Ömer Faruk

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Many unsolved rare diseases lack etiological information at the molecular level. In many cases mode of inheritance is may not be identified correctly, and even if a variant is identified, new functional studies are required to establish genotype-phenotype associations. Factors hamper rare disease research, such as the low number of patients, the absence of biomarkers, and the lack of effective diagnostics. The need for a joint effort between clinicians and researchers has been increasing. Enhancements in bioinformatics algorithms, new literature, and published cases in databases enable rare disease research to reveal new variants through manual curation or automated data mining. Reanalysis of exome sequencing data for unsolved rare disease cases has the potential to reveal novel gene and disease associations due to recent developments in bioinformatics tools. Additionally, recent technological advancements in sequencing technologies have increased the quality of raw exome data, increasing the success rate for variant discovery. Here, we present the importance of reanalyzing older sequencing data with recent algorithms and literature as well as resequencing DNA samples with the latest instruments for challenging rare diseases in a case study.

Subject Keywords

rare disease, resequencing, reanalysis, next-generation sequencing

URI

https://hdl.handle.net/11511/101233

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Graduate School of Informatics, Thesis