公开(公告)号：US20240018599A1

公开(公告)日：2024-01-18

申请号：US18035075

申请日：2021-11-17

Applicant: Ultima Genomics, Inc.

Inventor： Omer BARAD ,  Itai RUSINEK ,  Ilya SOIFER

IPC: C12Q1/6886 ,  C12Q1/6827

CPC classification number: C12Q1/6886 ,  C12Q1/6827 ,  C12Q2600/112

Abstract: Described herein are methods, devices, and systems for measuring a level, presence, recurrence, progression, or regression of a disease (such as cancer), for example a fraction of nucleic acid molecules (such as cell-free DNA) in a sample from an individual that relate to diseased tissue (such as cancer tissue). The methods include generating, using the sequencing data comprising sequencing reads associated with loci selected from a personalized disease-associated small nucleotide variant panel, a plurality of variant motif-specific models that each associate sequencing data corresponding to a respective variant motif, a background factor indicative of a false positive error rate for the respective variant motif, and an estimated fraction of the nucleic acid molecules associated with the disease. From the plurality of variant motif-specific models, a fraction of the nucleic acid molecules associated with the disease for the individual can be determined.