Systeme und Verfahren zur Charakterisierung von Mutationen

Details

Veröffentlichungs-Nr.

EP4797268

Anmeldetag

24. Februar 2026

Veröffentlichung

26. August 2026

Rechtsraum

EP

IPC

G16B20/20

Abstract

Systems and methods for characterizing a mutation include obtaining reference sequence reads mapping to a genomic location of the mutation from a first sequencing reaction using a reference sample of a subject, and obtaining tumor sequence reads mapping to the genomic location of the mutation from a second sequencing reaction using a solid tumor sample of the subject. A reference base fraction of the mutation is determined using the reference sequence reads. A germline expectation of the mutation is determined using a tumor purity of the solid tumor sample, the major and the minor copy number at the genomic location of the mutation derived from tumor sequence reads. The reference base fraction and the germline expectation of the mutation are inputted into a model thereby obtaining, as output from the model, a determination of whether the mutation is a clonal hematopoiesis of indeterminate potential mutation or a germline mutation.

Anmelder

Firma

Tempus AI, Inc.

Land

🇺🇸 USA

Fachgebiete