公开(公告)号：US20180298440A1

公开(公告)日：2018-10-18

申请号：US15818165

申请日：2017-11-20

申请人： Gregory Porreca ,  Mark Umbarger ,  Caleb Kennedy

发明人： Gregory Porreca ,  Mark Umbarger ,  Caleb Kennedy

IPC分类号： C12Q1/6874 ,  C12Q1/6869

CPC分类号： C12Q1/6874 ,  C12Q1/6869 ,  C12Q1/6883 ,  C12Q2563/185

摘要： The invention generally relates to methods for analyzing nucleic acids to identify novel mutations associated with diseases. In certain embodiments, methods of the invention involve obtaining nucleic acid from a subject having a disease, identifying at least one mutation in the nucleic acid, and comparing the mutation to a database of mutations known to be associated with the disease, wherein mutations that do not match to the database are identified as novel mutations.

公开(公告)号：US20130324417A1

公开(公告)日：2013-12-05

申请号：US13488142

申请日：2012-06-04

申请人： Caleb Kennedy ,  Mark Umbarger ,  Greg Porreca

发明人： Caleb Kennedy ,  Mark Umbarger ,  Greg Porreca

IPC分类号： C12Q1/68 ,  C40B20/00

CPC分类号： G16B30/00 ,  G16B20/00

摘要： The present invention generally relates to determining the clinical significance of a variant nucleic acid sequence. The invention can involve sequencing a nucleic acid to generate at least one sequence read, identifying a variant sequence within the sequence read, determining the equivalent insertion/deletion region (EIR) of the variant sequence, identifying a functional region including at least a portion of the EIR, and associating the EIR with the identified functional region, thereby to determine the clinical significance of the variant.

摘要翻译： 本发明一般涉及确定变体核酸序列的临床意义。 本发明可以包括对核酸进行测序以产生读取的至少一个序列，鉴定读取的序列中的变体序列，确定变体序列的等同插入/缺失区（EIR），鉴定包括至少一部分的功能区 EIR，并将EIR与鉴定的功能区域相关联，从而确定变体的临床意义。

公开(公告)号：US08209130B1

公开(公告)日：2012-06-26

申请号：US13439508

申请日：2012-04-04

申请人： Caleb Kennedy ,  Gregory J. Porreca

发明人： Caleb Kennedy ,  Gregory J. Porreca

IPC分类号： G06F19/00 ,  C12Q1/68

CPC分类号： C12Q1/6869 ,  G06F19/22

摘要： The invention relates to assembly of sequence reads. The invention provides a method for identifying a mutation in a nucleic acid involving sequencing nucleic acid to generate a plurality of sequence reads. Reads are assembled to form a contig, which is aligned to a reference. Individual reads are aligned to the contig. Mutations are identified based on the alignments to the reference and to the contig.

摘要翻译： 本发明涉及序列读取的组装。 本发明提供了鉴定涉及测序核酸的核酸中的突变以产生多个序列读数的方法。 读数被组合形成一个重叠符号，它与引用对齐。 个别读数与contig对齐。 基于与参考文献和重叠群体的比对来确定突变。