Patent ID: 11923049
Assignee: SOPHIA GENETICS S.A.
Field: Computer technology (Electrical engineering)
Classification: CPC G | IPC G

Claim 16:
17. A computer-implemented method to analyze next generation sequencing genomic data from a plurality of sourcing laboratories, comprising:
receiving, with a processor, via a communication network, a next generation sequencing analysis request from each of the plurality of sourcing laboratories, the next generation sequence request generated via a laboratory computing infrastructure of each of the plurality of sourcing laboratories, the next generation sequencing request comprising at least a raw next generation sequencing data file and the sourcing laboratory identification;
identifying, with a processor, a first set of characteristics associated with the next generation sequencing analysis request, the first set of characteristics comprising at least a target enrichment technology identifier, a sequencing technology identifier, and a genomic context identifier;
configuring, with a processor, a data alignment module to align the input raw sequencing data file in accordance with at least one characteristic of said first set of characteristics;
aligning, with the data alignment module processor, the input sequencing data to a genomic sequence;
configuring, with a processor, a variant calling module to identify variants associated with the input sequencing data in accordance with at least one characteristic of said first set of characteristics; and
identifying genomic variants, with the variant calling module processor, in the aligned genomic sequence.