公开(公告)号：US20180032671A1

公开(公告)日：2018-02-01

申请号：US15661804

申请日：2017-07-27

Applicant: Sequenom, Inc.

Inventor： Amin Mazloom ,  Cosmin Deciu ,  Chen Zhao ,  Tong Liu ,  Yijin Wu

IPC: G06F19/24 ,  G06N7/00

CPC classification number: G16B40/00 ,  G06N7/005 ,  G16B20/00

Abstract: Technology provided herein relates in part to non-invasive classification of one or more genetic copy number alterations (CNAs) for a test sample. Certain methods include sampling a quantification of sequence reads from parts of a genome, generating a confidence determination, and using the confidence determination to enhance classification. Technology provided herein is useful for classifying a genetic CNA for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.

公开(公告)号：US20150347676A1

公开(公告)日：2015-12-03

申请号：US14722416

申请日：2015-05-27

Applicant: Sequenom, Inc.

Inventor： Chen Zhao ,  Cosmin Deciu

IPC: G06F19/22 ,  G06F19/00

CPC classification number: C12Q1/6869 ,  C12Q1/6827 ,  C12Q2535/122 ,  G06F19/00 ,  G16B20/00 ,  G16B30/00 ,  G16B40/00 ,  G16H50/30 ,  Y02A90/26 ,  C12Q2537/16 ,  C12Q2537/165

Abstract: Technology described herein pertains in part to diagnostic tests that make use of sequence reads generated by a sequencing process. In some embodiments, a component used to generate a chromosome representation can be based on counts of sequence reads not aligned to a reference genome.

Abstract translation: 本文描述的技术部分地涉及利用由测序过程产生的序列读数的诊断测试。 在一些实施方案中，用于产生染色体表示的组分可以基于与参照基因组不对齐的序列读数的计数。