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Identification of disease gene variants in two siblings with birth anomalies using whole exome sequencing (WES) and in-silico analysis
University of Skövde, School of Health Sciences.
2021 (English)Independent thesis Basic level (degree of Bachelor), 20 credits / 30 HE creditsStudent thesis
Abstract [en]

Rare recessive disorders affect 3.5 % - 5.9% of the population worldwide. Most rare disorders are unclassified and are of unknown aetiology. Consanguinity is believed to increase the risk of rare recessive disorders in the offspring. In the current project, two siblings from consanguineous parents were born with severe skeletal and heart defects leading to death. This study aimed to uncover the potential genetic cause involved in the condition using Next Generation Sequencing and In-Silico analyses. First, the Whole Exome Sequencing data of the two affected siblings and their parents was analysed via the Variant-Calling Pipeline. The called gene-variants from the pipeline were filtered based on various In-silico analyses. Variant-dependent methods which included (Allele frequency, conservation, and pathogenicity prediction) and Disease-dependent methods that included (literature review, gene ontology, and pathway analysis) were used to confirm the deleteriousness of the identified rare variants. Three variants in three various genes were identified as candidates in the final list. The variants were then proven for autosomal recessive segregation in the family using homozygosity mapping. All identified variants are assumed to be involved in the observed phenotypes based on previously reported cases and In-Silico analysis.

Place, publisher, year, edition, pages
2021. , p. 36
National Category
Biomedical Laboratory Science/Technology
Identifiers
URN: urn:nbn:se:his:diva-19832OAI: oai:DiVA.org:his-19832DiVA, id: diva2:1567073
Subject / course
Biomedicine/Medical Science
Educational program
Biomedicine - Study Programme
Supervisors
Examiners
Available from: 2021-06-15 Created: 2021-06-15 Last updated: 2021-06-15Bibliographically approved

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CiteExportLink to record
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Citation style
  • apa
  • apa-cv
  • ieee
  • modern-language-association-8th-edition
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  • de-DE
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  • nn-NB
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  • Other locale
More languages
Output format
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