Verfahren zur Erkennung von Varianten in der Sequenzierung von Genomdaten der Nächsten Generation

Details

Veröffentlichungs-Nr.

EP4715826

Anmeldetag

12. Dezember 2018

Veröffentlichung

25. März 2026

Rechtsraum

EP

IPC

G16B20/30, G16B20/20G16B20/30

Abstract

A genomic data analyzer workflow may be configured to identify, with a variant annotation module, subsets of patient variants which match at least one medical reference variant database entry, even if the variant calling information in genomic data analyzer workflow and the database use different variant representations of SNP, MNP, INDELS and DELINS. In particular, database variants which are included into a subset of patient variants may be identified even if they do not exactly match the corresponding strings. The variant annotation module may be adapted to apply a branch-and-bound-like algorithm to efficiently process all possible subsets of patient variants in a genomic region.

Anmelder

Firma

Sophia Genetics S.A.

Land

🇨🇭 Schweiz

Fachgebiete