Method of characterizing DNA sample

• Main Authors: MCINTYRE JEFFREY JOHN, HERNANDO FUST, BARBARA, RUBEN MATTHIAS DRUZ, MARKOFETZ, FLORIAN
• Format: Patent
• Language: Chinese; English
• Published: 02.08.2024
• Subjects: INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTEDFOR SPECIFIC APPLICATION FIELDS; PHYSICS

A method of characterizing a DNA sample obtained from a tumor, the method comprising the steps of (a) obtaining a tumor copy number profile of the sample, (b) quantifying a set of copy number features of the copy number profile, and (c) determining an exposure of one or more signatures of chromosomal instability based on the quantified features. The copy number feature is an indicator that characterizes a copy number event in a copy number spectrum. The feature set does not include absolute copy numbers of segments in the copy number spectrum. Signatures of chromosomal instability have been obtained by quantifying a set of copy number features in a plurality of tumor samples and identifying one or more mutant signatures that may produce a copy number profile of the plurality of tumor samples. Methods of characterizing the type of chromosomal instability present in a sample, providing prognosis, identifying a drug target, or identifying a treatment for a subject are also described. 表征从肿瘤中获得的DNA样品的方法，所述方法包括以下步骤