专利检索 ap:("THE BROAD INSTITUTE, INC." OR "PRESIDENT AND FELLOWS OF HARVARD COLLEGE") AND inv:"Po-Ru Loh" 第 1 页

1.

发明授权
Methods and systems for detection of somatic structural variants 有权

公开(公告)号：US12131803B2

公开(公告)日：2024-10-29

申请号：US16757329

申请日：2018-10-17

申请人： THE BROAD INSTITUTE, INC. , PRESIDENT AND FELLOWS OF HARVARD COLLEGE

发明人： Giulio Genovese , Po-Ru Loh , Steven McCarroll

IPC分类号： G16B20/10 , C12Q1/6883 , C12Q1/6886 , G16B5/00 , G16B20/20 , G16H10/40

CPC分类号： G16B20/10 , G16B5/00 , G16B20/20 , G16H10/40 , C12Q1/6883 , C12Q1/6886

摘要： Embodiments disclosed herein provide methods, systems, and computer program products that utilize long-range phase information to detect subtle chromosome imbalances in genotype data. Clonal expansions result from mutation followed by selective proliferation, and the embodiments disclosed herein may be used to somatic structural variant events (SVs) predictive or diagnostic of cancer and other diseases.

2.

发明申请
METHODS AND SYSTEMS FOR DETECTION OF SOMATIC STRUCTURAL VARIANTS 审中-公开

公开(公告)号：US20200303036A1

公开(公告)日：2020-09-24

申请号：US16757329

申请日：2018-10-17

申请人： THE BROAD INSTITUTE, INC. , PRESIDENT AND FELLOWS OF HARVARD COLLEGE

发明人： Giulio Genovese , Po-Ru Loh , Steven McCarroll

IPC分类号： G16B20/10 , G16B20/20 , G16B5/00 , G16H10/40

摘要： Embodiments disclosed herein provide methods, systems, and computer program products that utilize long-range phase information to detect subtle chromosome imbalances in genotype data. Clonal expansions result from mutation followed by selective proliferation, and the embodiments disclosed herein may be used to somatic structural variant events (SVs) predictive or diagnostic of cancer and other diseases.