- 专利标题： DETECTING MUTATIONS AND PLOIDY IN CHROMOSOMAL SEGMENTS
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申请号： US18753991申请日： 2024-06-25
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公开(公告)号： US20240352513A1公开(公告)日： 2024-10-24
- 发明人: Joshua BABIARZ , Tudor Pompiliu CONSTANTIN , Lane A. EUBANK , George GEMELOS , Matthew Micah HILL , Huseyin Eser KIRKIZLAR , Matthew RABINOWITZ , Onur SAKARYA , Styrmir SIGURJONSSON , Bernhard ZIMMERMANN
- 申请人： Natera, Inc.
- 申请人地址： US CA San Carlos
- 专利权人： Natera, Inc.
- 当前专利权人： Natera, Inc.
- 当前专利权人地址： US CA San Carlos
- 主分类号： C12Q1/686
- IPC分类号： C12Q1/686 ; C12Q1/68 ; C12Q1/6811 ; C12Q1/6848 ; C12Q1/6874 ; C12Q1/6883
摘要：
The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.
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