Title:
METHODS AND APPLICATIONS OF GENE FUSION DETECTION IN CELL-FREE DNA ANALYSIS
Document Type and Number:
Japanese Patent JP2021052805
Kind Code:
A
Abstract:
To provide systems and methods for determining gene fusion.SOLUTION: Systems and methods are disclosed for determining gene fusion by: determining a fused read containing sequencing data of a portion of a fused chromosome DNA molecule; determining a predetermined point (breakpoint) on the genome where least one mapped portion of the fused read is clipped; identifying two mapped read portions from two breakpoints (breakpoint pair) as a potential fusion candidate; creating one or more fusion sets based on breakpoint pairs and clustering the fusion sets into one or more fusion clusters; and identifying each fusion cluster meeting a predetermined criterion as a gene fusion.SELECTED DRAWING: None
Inventors:
MOHAMMAD R MOKHTARI
BAHRAM GHAFFARZADEH KERMANI
BAHRAM GHAFFARZADEH KERMANI
Application Number:
JP2021003333A
Publication Date:
April 08, 2021
Filing Date:
January 13, 2021
Export Citation:
Assignee:
GUARDANT HEALTH INC
International Classes:
C12Q1/6869; G16B30/10; C12M1/34; G16B40/00
Foreign References:
| US20150142328A1 | 2015-05-21 | |||
| US20090202999A1 | 2009-08-13 | |||
| CN104894271A | 2015-09-09 |
Other References:
SCHRODER, JAN: "Socrates: identification of genomic rearrangements in tumour genomes by re-aligning soft clipped rea", BIOINFORMATICS, vol. 30, no. 8, JPN6020048297, 2 January 2014 (2014-01-02), GB, pages 1064 - 1072, XP055233373, ISSN: 0004745851, DOI: 10.1093/bioinformatics/btt767
Attorney, Agent or Firm:
Hidesaku Yamamoto
Natsuki Morishita
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto
Natsuki Morishita
Takatoshi Iida
Daisuke Ishikawa
Kensaku Yamamoto