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1. (WO2018219581) METHOD AND SYSTEM FOR NUCLEIC ACID SEQUENCING

Pub. No.:    WO/2018/219581    International Application No.:    PCT/EP2018/061288
Publication Date: Fri Dec 07 00:59:59 CET 2018 International Filing Date: Fri May 04 01:59:59 CEST 2018
IPC: C12Q 1/68
C12Q 1/6827
C12Q 1/6869
Applicants: SIEMENS HEALTHCARE GMBH
Inventors: HEUCKMANN, Johannes
MARIOTTI, Erika
Title: METHOD AND SYSTEM FOR NUCLEIC ACID SEQUENCING
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*.