公开(公告)号：US20140229495A1

公开(公告)日：2014-08-14

申请号：US13979908

申请日：2012-01-19

申请人： Vishnu Vardhan Makkapati ,  Nevenka Dimitrova ,  Randeep Singh ,  Sunil Kumar

发明人： Vishnu Vardhan Makkapati ,  Nevenka Dimitrova ,  Randeep Singh ,  Sunil Kumar

IPC分类号： G06F19/18

CPC分类号： G16B20/00 ,  G16B30/00

摘要： The present invention relates to a method for processing a subject's genomic data comprising (a) obtaining a subject's genomic sequence; (b) reducing the complexity and/or amount of the genomic sequence information; and (c) storing the genomic sequence information of step (b) in a rapidly retrievable form. The present invention further relates to a method wherein the step of reducing the complexity and/or amount of the genomic sequence information is carried out by cropping said genomic sequence information except for signature data pertaining to a disease or disorder, or by aligning a subject's genomic sequence with a reference sequence comprising signature data pertaining to a disease or disorder. Furthermore, the invention relates to a method wherein the use of a subject's functional genetic information, in particular gene expression data is included, as well as to a method, wherein the information is encoded in matrices and decoded and represented based on Markov chain processes. The obtained information can also be used for diagnosing, detecting, monitoring or prognosticating a disease and/or for the preparation of a subject's molecular history. In addition, a corresponding clinical decision support and storage system, preferably in the form of an electronic picture/data archiving and communication system, is provided.

摘要翻译： 本发明涉及一种用于处理受试者的基因组数据的方法，包括（a）获得受试者的基因组序列; （b）降低基因组序列信息的复杂性和/或量; 和（c）以快速可检索的形式存储步骤（b）的基因组序列信息。 本发明还涉及一种方法，其中降低基因组序列信息的复杂性和/或量的步骤是通过除除与疾病或病症有关的签名数据以外的所述基因组序列信息进行的，或者通过使受试者的基因组 序列具有包括与疾病或病症有关的签名数据的参考序列。 此外，本发明涉及一种方法，其中包括使用受试者的功能性遗传信息，特别是基因表达数据，以及一种方法，其中所述信息被编码在矩阵中并且基于马尔科夫链过程进行解码和表示。 获得的信息还可以用于诊断，检测，监测或预测疾病和/或用于制备受试者的分子病史。 此外，提供了优选地以电子图片/数据归档和通信系统的形式的相应的临床决策支持和存储系统。