公开(公告)号：US20240296912A1

公开(公告)日：2024-09-05

申请号：US18596526

申请日：2024-03-05

申请人： SOPHIA GENECTICS S.A.

发明人： Lin SONG ,  Tamara STEIJGER ,  Jonas BEHR ,  Adam NOVAK ,  David HERNANDEZ ,  Zhenyu XU

IPC分类号： G16B50/20 ,  G16B20/00 ,  G16B20/20 ,  G16B30/00 ,  G16B30/10 ,  G16B50/00 ,  G16B50/40 ,  G16B50/50

CPC分类号： G16B50/20 ,  G16B20/20 ,  G16B30/00 ,  G16B30/10 ,  G16B50/00 ,  G16B20/00 ,  G16B50/40 ,  G16B50/50

摘要： A genomic data analyzer system method to analyze next generation sequencing genomic data from a sourcing laboratory. The method includes receiving, with a processor, a next generation sequencing analysis request from a sourcing laboratory, 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; and aligning, with the data alignment module processor, the input sequencing data to a genomic sequence.