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公开(公告)号:US20240309464A1
公开(公告)日:2024-09-19
申请号:US18678577
申请日:2024-05-30
申请人: Natera, Inc.
发明人: Joshua BABIARZ , Tudor Pompiliu CONSTATIN , Lane A. EUBANK , George GEMELOS , Matthew Micah HILL , Huseyin Eser KIRKIZLAR , Matthew RABIBOWITZ , Onur SAKARYA , Styrmir SIGURJONSSON , Bernhard ZIMMERMANN
IPC分类号: C12Q1/6886 , C12Q1/6869 , G06N7/01 , G06N20/00 , G16B15/00 , G16B20/00 , G16B20/10 , G16B20/20 , G16B25/00 , G16B25/20 , G16B40/00 , G16B40/20 , G16H10/40 , G16H50/20 , G16Z99/00
CPC分类号: C12Q1/6886 , C12Q1/6869 , G06N7/01 , G06N20/00 , G16B15/00 , G16B20/00 , G16B20/10 , G16B20/20 , G16B25/00 , G16B40/00 , G16B40/20 , G16H10/40 , G16H50/20 , G16Z99/00 , C12Q2539/10 , C12Q2600/156 , C12Q2600/158 , C12Q2600/16 , C12Q2600/172 , G16B25/20
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.