公开(公告)号：US20240068033A1

公开(公告)日：2024-02-29

申请号：US18261366

申请日：2022-01-14

申请人： CASE WESTERN RESERVE UNIVERSITY ,  THE JOHNS HOPKINS UNIVERSITY

发明人： Sanford Markowitz ,  Amitabh Chak ,  Helen Moinova ,  Joseph Willis ,  Bert Vogelstein ,  Kenneth Kinzler ,  Nickolas Papadopoulos ,  Chetan Bettewgowda ,  Christopher Douville

IPC分类号： C12Q1/6883

CPC分类号： C12Q1/6883 ,  C12Q2600/118 ,  C12Q2600/156

摘要： A method of detecting Barrett's esophagus with low grade dysplasia, or Barrett's esophagus with high grade dysplasia, or adenocarcinoma of the esophagus, applying a Repetitive Element Aneuploidy Sequencing System (RealSeqS) methodology to a biological sample from the esophagus of the subject to detect Barrett's esophagus with low grade dysplasia, or Barrett's esophagus with high grade dysplasia, or adenocarcinoma of the esophagus.

公开(公告)号：US20220259668A1

公开(公告)日：2022-08-18

申请号：US17611788

申请日：2020-05-15

申请人： The Johns Hopkins University

发明人： Bert Vogelstein ,  Kenneth W. Kinzler ,  Christopher Douville ,  Nickolas Papadopoulos ,  Cristian Tomasetti

IPC分类号： C12Q1/6886 ,  G16B40/20 ,  G01N33/574

摘要： This document provides methods and materials for identifying chromosomal anomalies that can be used to identify a mammal as having a disease (e.g., cancer or congenital abnormality). For example, this document provides methods and materials for evaluating sequencing data to identify a mammal as having a disease associated with one or more chromosomal anomalies (e.g., cancer or congenital abnormalities). For example, this document provides methods and materials for evaluating sequencing data that can be used in cancer diagnostics, non-invasive prenatal testing (NIPT), preimplantation genetic diagnosis and evaluation of congenital abnormalities.

公开(公告)号：US20240045844A1

公开(公告)日：2024-02-08

申请号：US18265118

申请日：2021-10-01

申请人： The Johns Hopkins University

发明人： Christopher Douville ,  Haley Grant ,  Albert Kuo ,  Kamel Lahouel ,  Kenneth W. Kinzler ,  Nickolas Papadopoulos ,  Cristian Tomasetti ,  Bert Vogelstein

IPC分类号： G06F16/22 ,  G16H50/70 ,  G16H50/30

CPC分类号： G06F16/22 ,  G16H50/70 ,  G16H50/30

摘要： A method for classifying data using non-negative matrix factorization can include receiving a population of sample data, generating a first matrix of the amplicon counts per sample data, dividing the first matrix into a product of a second matrix and a third matrix, in the second matrix, determining whether each signature is a long or short fragment per each amplicon count, in the third matrix, determining intensities of each signature per the sample data, and classifying the sample data based on the intensities of each signature. The population can include amplicon counts per sample data. The second matrix can include signatures of short and long DNA fragments and the third matrix can include intensities of each signature of the short and long DNA fragments.