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.

公开(公告)号：US20230343416A1

公开(公告)日：2023-10-26

申请号：US18025603

申请日：2021-09-10

Applicant: Ultima Genomics, Inc.

Inventor： Yoav ETZIONI ,  Omer BARAD ,  Avishai BARTOV ,  Ilya SOIFER ,  Ehud AMITAI ,  Asaf HALLE

IPC: G16B40/10 ,  C12Q1/6869 ,  G16B40/20 ,  G16B30/10 ,  G06N3/0464

CPC classification number: G16B40/10 ,  C12Q1/6869 ,  G16B40/20 ,  G16B30/10 ,  G06N3/0464

Abstract: The present disclosure provides methods, systems, and media for accurate and efficient estimation of a genome of a genus. The methods and systems described herein may be used to accurately determine a base sequence of a polynucleotide. Additionally, the methods and systems may be used to identify base variants of a polynucleotide.