公开(公告)号：US11929143B2

公开(公告)日：2024-03-12

申请号：US16477923

申请日：2018-01-22

Applicant: Sequenom, Inc.

Inventor： Yijin Wu ,  Amin Mazloom ,  Yang Zhong ,  Mostafa Azab

IPC: G16B20/10 ,  C12Q1/68 ,  G16B20/20 ,  G16B30/10 ,  G16B40/00

CPC classification number: G16B20/10 ,  C12Q1/68 ,  G16B20/20 ,  G16B30/10 ,  G16B40/00

Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of copy number alterations. In particular, a method is provided for determining presence or absence of a copy number alteration for a test subject. The method includes providing a set of sequence reads. The sequence reads may be obtained from circulating cell free sample nucleic acid from a test sample obtained from the test subject, and the circulating cell free sample nucleic acid may be captured by probe oligonucleotides under hybridization conditions. The method further includes determining a probe coverage quantification of the sequence reads for the probe oligonucleotides and determining the presence or absence of a copy number alteration in the circulating cell free sample nucleic acid based on the probe coverage quantification of the sequence reads for the probe oligonucleotides for the test sample.

公开(公告)号：US20240233866A1

公开(公告)日：2024-07-11

申请号：US18429893

申请日：2024-02-01

Applicant: SEQUENOM, INC.

Inventor： Yijin Wu ,  Amin Mazloom ,  Yang Zhong ,  Mostafa Azab

IPC: G16B20/10 ,  C12Q1/68 ,  G16B20/20 ,  G16B30/10 ,  G16B40/00

CPC classification number: G16B20/10 ,  C12Q1/68 ,  G16B20/20 ,  G16B30/10 ,  G16B40/00

Abstract: The present invention relates to systems and methods for non-invasive assessment of genetic variation. In particular, aspects are directed to a computer-implemented method that includes ligating nucleic acid molecules with adapters to generate sequence constructs, sequencing the sequence constructs to obtain sequence reads, generating an alignment computer file including on-target sequence reads and associated genomic positioning data, generating a probe coverage data file for the sample using the on-target sequence reads and the associated genomic positioning data, generating segments and associated probe coverage quantification data for each segment using a segmentation model and the probe coverage data file, identifying genes overlapping with the segments, generating filtered segments based on the identified genes, and determining a presence or absence of a genetic variation in the sample based on the filtered segments.