Semantic-enabled hybrid genetic disease diagnostics in Next-Generation Sequenced data

• Autorzy: Zawadzka-Gosk E. , Wołk K.

Identyfikatory

DOI

10.7494/csci.2018.19.2.2319

• Języki publikacji: EN

Abstrakty

EN

Next Generation Sequencing is a technology for genome sequencing used in genetics for the diagnosis of disease. NGS provides a list of all mutations in a genome, so identifying the one that causes a disease is not trivial. A number of applications for variant prioritization were developed, but the data they provide is a suggestion rather than a diagnosis; moreover, they sufer from issues such as identifying a nonpathogenic variant as a causal one or the inability to identify a causal gene. These issues inspired us to create a strategy for variant prioritization, which includes the use of the Exomiser and OMIM Explorer result sets improved by semantic analysis of abstracts and articles freely available from the PubMed and PubMed Central databases. For the wider scope of scientific articles, the Google Scholar repository will be used. The described approach enables us to present the latest and most accurate information about potential pathogenic variants.

Słowa kluczowe

EN

gene prioritization; variant prioritization; semantical text analysis

• Wydawca: Wydawnictwa AGH
• Czasopismo: Computer Science
• Rocznik: 2018
• Tom: Vol. 19 (2)
• Strony: 179--199
• Opis fizyczny: Bibliogr. 47 poz., rys., tab.

Twórcy

autor

Zawadzka-Gosk E.

• Polish-Japanese Academy of Information Technology, Warsaw, Poland

autor

Wołk K.

• Polish-Japanese Academy of Information Technology, Warsaw, Poland

Bibliografia

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Uwagi

PL

Opracowanie rekordu w ramach umowy 509/P-DUN/2018 ze środków MNiSW przeznaczonych na działalność upowszechniającą naukę (2018).