prikaz prve stranice dokumenta APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA
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master's thesis
APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA
2023. urn:nbn:hr:184:087163
Wisniewski, Lisa
University of Rijeka
Faculty of Medicine

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Wisniewski, L. (2023). APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA (Master's thesis). Rijeka: University of Rijeka, Faculty of Medicine. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:087163

Wisniewski, Lisa. "APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA." Master's thesis, University of Rijeka, Faculty of Medicine, 2023. https://urn.nsk.hr/urn:nbn:hr:184:087163

Wisniewski, Lisa. "APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA." Master's thesis, University of Rijeka, Faculty of Medicine, 2023. https://urn.nsk.hr/urn:nbn:hr:184:087163

Wisniewski, L. (2023). 'APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA', Master's thesis, University of Rijeka, Faculty of Medicine, accessed 11 April 2025, https://urn.nsk.hr/urn:nbn:hr:184:087163

Wisniewski L. APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA [Master's thesis]. Rijeka: University of Rijeka, Faculty of Medicine; 2023 [cited 2025 April 11] Available at: https://urn.nsk.hr/urn:nbn:hr:184:087163

L. Wisniewski, "APPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA", Master's thesis, University of Rijeka, Faculty of Medicine, Rijeka, 2023. Available at: https://urn.nsk.hr/urn:nbn:hr:184:087163

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Metadata
TitleAPPLICATION OF NEXT GENERATION SEQUENCING IN NEUROLOGY – RETROSPECTIVE STUDY AT THE DEPARTMENT OF MEDICAL GENETICS AND BIOLOGY, FACULTY OF MEDICINE RIJEKA
AuthorLisa Wisniewski
MentorNina Pereza (mentor)
Committee memberSaša Ostojić (predsjednik povjerenstva)
Committee memberSanja Dević Pavlić (član povjerenstva)
Committee memberLara Batičić (član povjerenstva)
GranterUniversity of Rijeka
Faculty of Medicine
Rijeka
Defense date and country2023-06-27, Croatia
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Abstract
Genetics is rapidly advancing, with new technologies revolutionizing research. However, opportunities provided by NGS seemingly cannot be replicated in clinics, due to lack of genetic expertise among specialists. NGS is a DNA sequencing method, allowing rapid detection of genetic variants in probands by comparison to a reference genome. NGS is an important diagnostic tool in the field of Neurology, as the prevalence of genetic factors in etiology is high, such as in a multitude of causes for... More movement disorders, developmental delay and morphological brain anomalies, epilepsy, and other neurological diseases. The aim of this study was to assess the usefulness of NGS. A retrospective study was per-formed, evaluating the indications for NGS in Neurology and pediatric Neurology from 2018-2022, at the University of Rijeka. Of 116 NGS tests performed across 5 years, 31 pathological variants could be detected across 27 genes, providing a diagnosis for 27 patients (23%). The highest outcome of posi-tive genetic results occurred in developmental anomalies, while the lowest, compared to negative findings, was in dystonia. Genetic movement disorders were found to be more frequent in the younger population, which is in concordance with previous research. Diagnosed developmental delay is a strong indicator for NGS, especially with concomitant structural brain malformations, sei-zures, or movement disorders. NGS is the gold standard for the diagnosis of primary epi-lepsy, indicating that in Rijeka epilepsy is an underrepresented indication for NGS. In conclusion, the guidelines for applications of NGS in Neurology could be optimized, with emphasis on genetic education of neurologists. Less
Keywords
Languageenglish
URN:NBNurn:nbn:hr:184:087163
Study programmeTitle: Medicine
Study programme type: university
Study level: integrated undergraduate and graduate
Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2023-06-27 20:26:33
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