公开(公告)号：US20180355423A1

公开(公告)日：2018-12-13

申请号：US16006704

申请日：2018-06-12

申请人： GRAIL, Inc.

发明人： Xiao Yang ,  Hyungsung John Kim ,  Wenying Pan ,  Matthew H. Larson ,  Eric Michael Scott ,  Pranav Parmjit Singh ,  Mohini Jangi Desai

IPC分类号： C12Q1/6874 ,  G06F19/22 ,  G16H50/20 ,  G16H50/30

CPC分类号： C12Q1/6874 ,  C12Q2600/112 ,  C12Q2600/118 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/16 ,  G06F19/22 ,  G16H50/20 ,  G16H50/30

摘要： Cell free nucleic acids from a test sample obtained from an individual are analyzed to identify possible fusion events. Cell free nucleic acids are sequenced and processed to generate fragments. Fragments are decomposed into kmers and the kmers are either analyzed de novo or compared to targeted nucleic acid sequences that are known to be associated with fusion gene pairs of interest. Thus, kmers that may have originated from a fusion event can be identified. These kmers are consolidated to generate gene ranges from various genes that match sequences in the fragment. A candidate fusion event can be called given the spanning of one or more gene ranges across the fragment.

公开(公告)号：US11473137B2

公开(公告)日：2022-10-18

申请号：US16006704

申请日：2018-06-12

申请人： GRAIL, Inc.

发明人： Xiao Yang ,  Hyunsung John Kim ,  Wenying Pan ,  Matthew H. Larson ,  Eric Michael Scott ,  Pranav Parmjit Singh ,  Mohini Jangi Desai

IPC分类号： G01N33/48 ,  C12Q1/6874 ,  G16H50/20 ,  G16H50/30 ,  G16B30/00 ,  G16B5/00 ,  G16B10/00 ,  G16B20/00 ,  G16B15/00 ,  G16B25/00 ,  G16B35/00 ,  G16B40/00 ,  G16B45/00 ,  G16B50/00 ,  G16B30/20 ,  G16B30/10 ,  G16B35/10 ,  G16B35/20

摘要： Cell free nucleic acids from a test sample obtained from an individual are analyzed to identify possible fusion events. Cell free nucleic acids are sequenced and processed to generate fragments. Fragments are decomposed into kmers and the kmers are either analyzed de novo or compared to targeted nucleic acid sequences that are known to be associated with fusion gene pairs of interest. Thus, kmers that may have originated from a fusion event can be identified. These kmers are consolidated to generate gene ranges from various genes that match sequences in the fragment. A candidate fusion event can be called given the spanning of one or more gene ranges across the fragment.