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Identification of disease-causing genes in fetus with fetal akinseia deformation sequence using next generation sequencing and in silico algorithms
University of Skövde, School of Health Sciences.
2021 (English)Independent thesis Basic level (degree of Bachelor), 20 credits / 30 HE creditsStudent thesis
Abstract [en]

Fetal akinesia deformation sequence (FADS) is a rare disease clinically characterized by intrauterine growth restriction, arthrogryposis, and pulmonary hypoplasia. Rare diseases are not frequently investigated as they are defined as uncommon. However, more than 3% of the world’s population suffer from a type of rare disease. This equates to approximately 300 million people globally, indicating that rare diseases are not as sporadic as it appears. It is difficult to diagnose and treat rare diseases as limited research is conducted within these fields. Application of the recently developed next generation sequencing technique has become of aid in diagnosing and identifying genetic causes. In the current study, analysis of whole exome sequencing data on a fetus from a consanguineous family diagnosed with FADS was performed. The variants obtained were filtered using an artificial intelligence-based software. Candidate genes were studied, annotated, and mapped homozygously for identification and validation of the pathogenic variant. Results revealed four potential disease causing genes involved in various pathways and functions. Literature review and in silico analysis suggested that the fetus was experiencing a likely polygenic effect with phenotypes attributed to all four genes. In conclusion, further research is required for certification and determination of pathophysiology.

Place, publisher, year, edition, pages
2021. , p. 33
National Category
Biomedical Laboratory Science/Technology
Identifiers
URN: urn:nbn:se:his:diva-19831OAI: oai:DiVA.org:his-19831DiVA, id: diva2:1567068
Subject / course
Biomedicine/Medical Science
Educational program
Biomedicine - Study Programme
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Available from: 2021-06-15 Created: 2021-06-15 Last updated: 2021-06-15Bibliographically approved

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