Verfahren und System zur Nukleinsäuresequenzierung

Details

Veröffentlichungs-Nr.

EP3409788

Aktenzeichen

EP17174059

Anmeldetag

1. Juni 2017

Veröffentlichung

6. Januar 2021

Erteilung

6. Januar 2021

Rechtsraum

EP

IPC

C12Q1/6869

Abstract

The present invention relates to methods and systems for nucleic acid sequencing. In particular, the present invention relates to methods and systems for reducing the number of false-positives in nucleic acid sequencing. The method comprises: aligning a plurality of genetic reads to a reference genetic sequence; grouping the genetic reads into a plurality of groups; creating a consensus sequence for each group of the plurality of groups by setting a representation of the most abundant nucleotide man_p or a tag N based on a ratio r; and identifying a variation as a true variation if a ratio r* between the number of consensus sequences comprising the tag N at a specific position p and the number of the consensus sequences comprising the variation at the specific position p is below a threshold t*.

Anmelder

Firma

Siemens Healthcare GmbH

Land

🇩🇪 Deutschland

Fachgebiete