A PRIORITIZATION AND SCORING METHOD

The invention relates to a prioritization and scoring method which facilitates the interpretation of the genetic variants (in VCF file formed as a result of the bioinformatics pipeline) by the user, using machine learning for the analysis of Next-Generation Sequencing (NGS) data.

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Bibliographische Detailangaben
Hauptverfasser: ÖKSÜZ, Cüneyt, ONAY, Bahadir, ONAY, Hüseyin, TA AR, Orçun, AKTOLUN, Muhammed, EREN, Kazim Kivanç, DARDA AN, Ya mur Ceren, TÜRKO LU ÖZTORUN, Irmak, ÇINAR, Esra
Format: Patent
Sprache:eng ; fre ; ger
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Beschreibung
Zusammenfassung:The invention relates to a prioritization and scoring method which facilitates the interpretation of the genetic variants (in VCF file formed as a result of the bioinformatics pipeline) by the user, using machine learning for the analysis of Next-Generation Sequencing (NGS) data.