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1. 发明申请

US20080318223A1 LARGE DELETIONS IN HUMAN BRCA1 GENE AND USE THEREOF 审中-公开
标题翻译：人BRCA1基因中的大量残基及其用途
公开(公告)号：US20080318223A1
公开(公告)日：2008-12-25
申请号：US11830604
申请日：2007-07-30
申请人： Thomas Scholl , Brant C. Hendrickson , Benjamin Ward , Dmitry Pruss
发明人： Thomas Scholl , Brant C. Hendrickson , Benjamin Ward , Dmitry Pruss
IPC分类号： C12Q1/68 , C07K7/06 , C07K16/18
CPC分类号： C12Q1/6886 , C12Q2600/136 , C12Q2600/156
摘要： Large deletions have been identified in the BRCA1 gene in patients. The large deletions predispose the patients to breast cancer and ovarian cancer. Thus, methods for detecting the genetic variants are provided which can be used in detecting a predisposition to cancer.
摘要翻译： BRCA1基因中已发现大量缺失。大量的缺失使患者易患乳腺癌和卵巢癌。因此，提供了用于检测遗传变体的方法，其可用于检测癌症的倾向。

2. 发明申请

US20080318224A1 LARGE DELETIONS IN HUMAN BRCA1 GENE AND USE THEREOF 审中-公开
公开(公告)号：US20080318224A1
公开(公告)日：2008-12-25
申请号：US11830625
申请日：2007-07-30
申请人： Thomas Scholl , Brant C. Hendrickson , Benjamin Ward , Dmitry Pruss
发明人： Thomas Scholl , Brant C. Hendrickson , Benjamin Ward , Dmitry Pruss
IPC分类号： C12Q1/68 , G01N33/53
CPC分类号： C12Q1/6886 , C12Q2600/136 , C12Q2600/156
摘要： Large deletions have been identified in the BRCA1 gene in patients. The large deletions predispose the patients to breast cancer and ovarian cancer. Thus, methods for detecting the genetic variants are provided which can be used in detecting a predisposition to cancer.

3. 发明授权

US07250497B2 Large deletions in human BRCA1 gene and use thereof 有权
标题翻译：人类BRCA1基因的大量缺失及其用途
公开(公告)号：US07250497B2
公开(公告)日：2007-07-31
申请号：US10457839
申请日：2003-06-09
申请人： Thomas Scholl , Brant C. Hendrickson , Benjamin Ward , Dmitry Pruss
发明人： Thomas Scholl , Brant C. Hendrickson , Benjamin Ward , Dmitry Pruss
IPC分类号： C07H21/02 , C12P19/34
CPC分类号： C12Q1/6886 , C12Q2600/136 , C12Q2600/156
摘要： Large deletions have been identified in the BRCA1 gene in patients. The large deletions predispose the patients to breast cancer and ovarian cancer. Thus, methods for detecting the genetic variants are provided which can be used in detecting a predisposition to cancer.
摘要翻译： BRCA1基因中已发现大量缺失。大量的缺失使患者易患乳腺癌和卵巢癌。因此，提供了用于检测遗传变体的方法，其可用于检测癌症的倾向。

4. 发明授权

US06895337B1 Method of identifying genomic rearrangements 失效
标题翻译：识别基因组重排的方法
公开(公告)号：US06895337B1
公开(公告)日：2005-05-17
申请号：US10272609
申请日：2002-10-15
申请人： Thomas Scholl , Dmitry Pruss , Brant C. Hendrickson
发明人： Thomas Scholl , Dmitry Pruss , Brant C. Hendrickson
IPC分类号： G05B15/00 , G06F19/00 , G11C17/00
CPC分类号： G06F19/18
摘要： Methods, computer program products and systems are provided for detecting large genomic rearrangements based on unphased genotype data obtained using common genotyping techniques that do not differentiate different alleles. In the method, unphased genotypes at a plurality of nucleotide variant markers of a particular gene in a diploid subject are compared with a canonical haplotype collection of the gene for a heterogeneous subject population. If the unphased genotypes cannot be reduced to a pair of canonical haplotypes within the canonical haplotype collection, it would indicate an increased likelihood that an allele of the gene in the diploid subject harbors a genomic rearrangement.
摘要翻译：提供了一种计算机程序产品和系统，用于基于使用不区分不同等位基因的常见基因分型技术获得的未定性基因型数据来检测大型基因组重排。在该方法中，将二倍体受试者中特定基因的多个核苷酸变体标记物上的未定型基因型与异源受试群体的基因的规范单倍型集合进行比较。如果未定型的基因型不能被减少到规范单倍型集合中的一对典型单倍型，则其将表明二倍体受试者中基因的等位基因具有基因组重排的可能性增加。

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