公开(公告)号：US20250011863A1

公开(公告)日：2025-01-09

申请号：US18769897

申请日：2024-07-11

Applicant: Life Technologies Corporation

Inventor： Dumitru Brinza ,  Zheng Zhang ,  Fiona Hyland ,  Rajesh Gottimukkala

IPC: C12Q1/6874 ,  G16B5/00 ,  G16B5/20 ,  G16B30/00 ,  G16B30/10 ,  G16B30/20

Abstract: Systems and method for determining variants can receive mapped reads, align flow space information to a flow space representation of a corresponding portion of the reference. Reads spanning a position with a potential variant can be evaluated in a context specific manner. A list of probable variants can be provided.

公开(公告)号：US11817180B2

公开(公告)日：2023-11-14

申请号：US16279315

申请日：2019-02-19

Applicant: LIFE TECHNOLOGIES CORPORATION

Inventor： Zheng Zhang ,  Danwei Guo ,  Yuandan Lou ,  Asim Siddiqui ,  Dumitru Brinza

IPC: G16B30/10 ,  G16B30/00 ,  G16B30/20

CPC classification number: G16B30/10 ,  G16B30/00 ,  G16B30/20

Abstract: Nucleic acid sequence mapping/assembly methods are disclosed. The methods initially map only a contiguous portion of each read to a reference sequence and then extends the mapping of the read at both ends of the mapped contiguous portion until the entire read is mapped (aligned). In various embodiments, a mapping score can be calculated for the read alignment using a scoring function, score (i, j)=M+mx, where M can be the number of matches in the extended alignment, x can be the number of mismatches in the alignment, and m can be a negative penalty for each mismatch. The mapping score can be utilized to rank or choose the best alignment for each read.