公开(公告)号：US20210327534A1

公开(公告)日：2021-10-21

申请号：US17119606

申请日：2020-12-11

申请人： Virgil Nicula ,  Ognjen Nikolic ,  Yasushi Saito ,  Marius Eriksen ,  Josh Newman ,  Darya Filippova ,  Alexander Yip ,  Oliver Venn ,  Joerg Bredno ,  Qinwen Liu ,  Alexander P. Fields

发明人： Virgil Nicula ,  Ognjen Nikolic ,  Yasushi Saito ,  Marius Eriksen ,  Josh Newman ,  Darya Filippova ,  Alexander Yip ,  Oliver Venn ,  Joerg Bredno ,  Qinwen Liu ,  Alexander P. Fields

IPC分类号： G16B20/00 ,  G16B20/20

摘要： Methods for determining a disease condition of a subject of a species are provided that comprises obtaining a dataset of fragment methylation patterns determined by methylation sequencing of nucleic acid from a biological sample of the subject. A fragment methylation pattern comprises the methylation state of each CpG site in the fragment. A patch including a channel comprising parameters for the methylation status of respective CpG sites in a set of CpG sites in a reference genome represented by the patch is constructed by populating, for each respective fragment in the plurality of fragments that aligns to the set of CpG sites, an instance of all or a portion of the plurality of parameters based on the methylation pattern of the respective fragment. Application of the patch to a patch convolutional neural network determines the disease condition of the subject.