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1. 发明授权

US07115709B1 Methods of staining target chromosomal DNA employing high complexity nucleic acid probes 失效
标题翻译：使用高度复杂的核酸探针染色靶染色体DNA的方法
公开(公告)号：US07115709B1
公开(公告)日：2006-10-03
申请号：US08487701
申请日：1995-06-07
申请人： Joe W. Gray , Daniel Pinkel , Ol'li-Pekka Kallioniemi , Anne Kallioniemi , Masaru Sakamoto
发明人： Joe W. Gray , Daniel Pinkel , Ol'li-Pekka Kallioniemi , Anne Kallioniemi , Masaru Sakamoto
IPC分类号： C07K17/00 , C12Q1/68
CPC分类号： C12Q1/6879 , C12Q1/6827 , C12Q1/6841 , C12Q1/6876 , C12Q1/6886 , C12Q2563/107 , C12Q2563/131 , C12Q2525/151
摘要： Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML), retinoblastoma, ovarian and uterine cancers, and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar but genetically different diseases, and for many prognostic and diagnostic applications.
摘要翻译：提供了基于使用核酸探针的核酸序列进行染色的方法和组合物。所述方法产生可针对特定细胞遗传学分析进行定制的染色模式。所述探针适用于原位杂交并染色具有可靠信号的相间和中期染色体材料。核酸探针通常具有大于50kb的复杂度，其复杂性取决于细胞遗传学应用。提供方法和试剂用于检测遗传重排。探针和测试试剂盒用于检测遗传重排，特别是用于肿瘤细胞遗传学，用于检测疾病相关的基因座，特别是癌症，如慢性骨髓性白血病（CML），视网膜母细胞瘤，卵巢和子宫癌，以及生物学剂量测定描述了细胞遗传学研究的方法和试剂，用于细胞遗传学上相似但遗传上不同的疾病的分化，以及许多预后和诊断应用。

2. 发明授权

US06335167B1 Comparative genomic hybridization (CGH) 失效
标题翻译：比较基因组杂交（CGH）
公开(公告)号：US06335167B1
公开(公告)日：2002-01-01
申请号：US09311835
申请日：1999-05-14
申请人： Daniel Pinkel , Joe W. Gray , Anne Kallioniemi , Ollie-Pekka Kallioniemi , Frederic Waldman , Masaru Sakamoto
发明人： Daniel Pinkel , Joe W. Gray , Anne Kallioniemi , Ollie-Pekka Kallioniemi , Frederic Waldman , Masaru Sakamoto
IPC分类号： C12Q168
CPC分类号： C12Q1/6809 , C12Q1/6841 , C12Q1/6886 , C12Q2600/156 , G06F15/025 , Y10S436/813 , C12Q2545/114 , C12Q2537/157
摘要： Disclosed are new methods comprising the use of in situ hybridization to detect abnormal nucleic acid sequence copy numbers in one or more genomes wherein repetitive sequences that bind to multiple loci in a reference chromosome spread are either substantially removed and/or their hybridization signals suppressed. The invention termed Comparative Genomic Hybridization (CGH) provides for methods of determining the relative number of copies of nucleic acid sequences in one or more subject genomes or portions thereof (for example, a tumor cell) as a function of the location of those sequences in a reference genome (for example, a normal human genome). The intensity(ies) of the signals from each labeled subject nucleic acid and/or the differences in the ratios between different signals from the labeled subject nucleic acid sequences are compared to determine the relative copy numbers of the nucleic acid sequences in the one or more subject genomes as a function of position along the reference chromosome spread. Amplifications, duplications and/or deletions in the subject genome(s) can be detected. Also provided is a method of determining the absolute copy numbers of substantially all RNA or DNA sequences in subject cell(s) or cell population(s).
摘要翻译：公开了包括使用原位杂交来检测一个或多个基因组中的异常核酸序列拷贝数的新方法，其中结合参考染色体扩增的多个基因座的重复序列基本上被去除和/或其杂交信号被抑制。称为比较基因组杂交（CGH）的发明提供了确定一个或多个受试者基因组或其部分（例如肿瘤细胞）中核酸序列的相对拷贝数的方法，作为这些序列的位置的函数参考基因组（例如，正常人类基因组）。比较来自每个标记的对象核酸的信号的强度和/或来自标记的目标核酸序列的不同信号之间的比率差异，以确定一个或多个核酸序列中核酸序列的相对拷贝数主题基因组作为沿着参考染色体扩散的位置的函数。可以检测主题基因组中的扩增，重复和/或缺失。还提供了确定受试细胞或细胞群体中基本上所有RNA或DNA序列的绝对拷贝数的方法。

3. 发明授权

US06344315B1 Chromosome-specific staining to detect genetic rearrangements associated with chromosome 3 and/or chromosome 17 失效
标题翻译：染色体特异性染色以检测与染色体3和/或染色体17相关的遗传重排
公开(公告)号：US06344315B1
公开(公告)日：2002-02-05
申请号：US08477316
申请日：1995-06-07
申请人： Joe W. Gray , Daniel Pinkel , Olli-Pekka Kallioniemi , Anne Kallioniemi , Masaru Sakamoto
发明人： Joe W. Gray , Daniel Pinkel , Olli-Pekka Kallioniemi , Anne Kallioniemi , Masaru Sakamoto
IPC分类号： C12Q168
CPC分类号： C12Q1/6841 , C12Q1/6886 , C12Q2563/107 , C12Q2563/131 , C12Q2525/151
摘要： Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML), retinoblastoma, ovarian and uterine cancers, and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar but genetically different diseases, and for many prognostic and diagnostic applications.
摘要翻译：提供了基于使用核酸探针的核酸序列进行染色的方法和组合物。所述方法产生可针对特定细胞遗传学分析进行定制的染色模式。所述探针适用于原位杂交并染色具有可靠信号的相间和中期染色体材料。核酸探针通常具有大于50kb的复杂度，其复杂性取决于细胞遗传学应用。提供方法和试剂用于检测遗传重排。探针和测试试剂盒用于检测遗传重排，特别是用于肿瘤细胞遗传学，用于检测疾病相关的基因座，特别是癌症，如慢性骨髓性白血病（CML），视网膜母细胞瘤，卵巢和子宫癌，以及生物学剂量测定描述了细胞遗传学研究的方法和试剂，用于细胞遗传学上相似但遗传上不同的疾病的分化，以及许多预后和诊断应用。

4. 发明授权

US5856097A Comparative genomic hybridization (CGH) 失效
标题翻译：比较基因组杂交（CGH）
公开(公告)号：US5856097A
公开(公告)日：1999-01-05
申请号：US562898
申请日：1995-11-27
申请人： Daniel Pinkel , Joe W. Gray , Anne Kallioniemi , Olli-Pekka Kallioniemi , Frederic Waldman , Masaru Sakamoto
发明人： Daniel Pinkel , Joe W. Gray , Anne Kallioniemi , Olli-Pekka Kallioniemi , Frederic Waldman , Masaru Sakamoto
IPC分类号： C12Q1/68 , G06F15/02 , C07H21/04 , C12P19/34 , C12Q1/70
CPC分类号： C12Q1/6809 , C12Q1/6841 , C12Q1/6886 , G06F15/025 , C12Q2600/156 , Y10S436/813
摘要： Disclosed are new methods comprising the use, of in situ hybridization to detect abnormal nucleic acid sequence copy numbers in one or more genomes wherein repetitive sequences that bind to multiple loci in a reference chromosome spread are either substantially removed and/or their hybridization signals suppressed. The invention termed Comparative Genomic Hybridization (CGH) provides for methods of determining the relative number of copies of nucleic acid sequences in one or more subject genomes or portions thereof (for example, a tumor cell) as a function of the location of those sequences in a reference genome (for example, a normal human genome). The intensity(ies) of the signals from each labeled subject nucleic acid and/or the differences in the ratios between different signals from the labeled subject nucleic acid sequences are compared to determine the relative copy numbers of the nucleic acid sequences in the one or more subject genomes as a function of position along the reference chromosome spread. Amplifications, duplications and/or deletions in the subject genome(s) can be detected. Also provided is a method of determining the absolute copy numbers of substantially all RNA or DNA sequences in subject cell(s) or cell population(s).
摘要翻译：公开了包括使用原位杂交以检测一个或多个基因组中的异常核酸序列拷贝数的新方法，其中与参考染色体扩增中的多个基因座结合的重复序列基本上被去除和/或其杂交信号被抑制。称为比较基因组杂交（CGH）的发明提供了确定一个或多个受试者基因组或其部分（例如肿瘤细胞）中核酸序列的相对拷贝数的方法，作为这些序列的位置的函数参考基因组（例如，正常人类基因组）。比较来自每个标记的对象核酸的信号的强度和/或来自标记的目标核酸序列的不同信号之间的比率差异，以确定一个或多个核酸序列中核酸序列的相对拷贝数主题基因组作为沿着参考染色体扩散的位置的函数。可以检测主题基因组中的扩增，重复和/或缺失。还提供了确定受试细胞或细胞群体中基本上所有RNA或DNA序列的绝对拷贝数的方法。

5. 再颁专利

USRE40494E1 Chromosome-specific staining to detect genetic rearrangements associated with chromosome 3 and/or chromosome 17 有权
标题翻译：染色体特异性染色检测遗传重排
公开(公告)号：USRE40494E1
公开(公告)日：2008-09-09
申请号：US11398456
申请日：2006-04-04
申请人： Joe W. Gray , Daniel Pinkel , Olli-Pekka Kallioniemi , Anne Kallioniemi , Masaru Sakamoto
发明人： Joe W. Gray , Daniel Pinkel , Olli-Pekka Kallioniemi , Anne Kallioniemi , Masaru Sakamoto
IPC分类号： C12Q1/68 , C07H21/00
CPC分类号： C12Q1/6879 , C12Q1/6827 , C12Q1/6841 , C12Q1/6876 , C12Q1/6886 , C12Q2563/107 , C12Q2563/131 , C12Q2525/151
摘要： Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML), retinoblastoma, ovarian and uterine cancers, and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar but genetically different diseases, and for many prognostic and diagnostic applications.
摘要翻译：提供了基于使用核酸探针的核酸序列进行染色的方法和组合物。所述方法产生可针对特定细胞遗传学分析进行定制的染色模式。所述探针适用于原位杂交并染色具有可靠信号的相间和中期染色体材料。核酸探针通常具有大于50kb的复杂度，其复杂性取决于细胞遗传学应用。提供方法和试剂用于检测遗传重排。探针和测试试剂盒用于检测遗传重排，特别是用于肿瘤细胞遗传学，用于检测疾病相关的基因座，特别是癌症，如慢性骨髓性白血病（CML），视网膜母细胞瘤，卵巢和子宫癌，以及生物学剂量测定描述了细胞遗传学研究的方法和试剂，用于细胞遗传学上相似但遗传上不同的疾病的分化，以及许多预后和诊断应用。

6. 发明授权

US06475720B1 Chromosome-specific staining to detect genetic rearrangements associated with chromosome 3 and/or chromosome 17 失效
标题翻译：染色体特异性染色以检测与染色体3和/或染色体17相关的遗传重排
公开(公告)号：US06475720B1
公开(公告)日：2002-11-05
申请号：US08478387
申请日：1995-06-07
申请人： Joe W. Gray , Daniel Pinkel , Olli-Pekka Kallioniemi , Anne Kallioniemi , Masaru Sakamoto
发明人： Joe W. Gray , Daniel Pinkel , Olli-Pekka Kallioniemi , Anne Kallioniemi , Masaru Sakamoto
IPC分类号： C12Q168
CPC分类号： C12Q1/6827 , C12Q1/6841 , C12Q1/6876 , C12Q1/6879 , C12Q1/6886 , C12Q2600/156 , C12Q2563/107 , C12Q2563/131 , C12Q2525/151
摘要： Methods and compositions for staining based upon nucleic acid sequence that employ nudeic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML), retinoblastoma, ovarian and uterine cancers, and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar but genetically different diseases, and for many prognostic and diagnostic applications.
摘要翻译：提供了基于使用乳酸探针的核酸序列进行染色的方法和组合物。所述方法产生可针对特定细胞遗传学分析进行定制的染色模式。所述探针适用于原位杂交并染色具有可靠信号的相间和中期染色体材料。核酸探针通常具有大于50kb的复杂度，其复杂性取决于细胞遗传学应用。提供方法和试剂用于检测遗传重排。探针和测试试剂盒用于检测遗传重排，特别是用于肿瘤细胞遗传学，用于检测疾病相关的基因座，特别是癌症，如慢性骨髓性白血病（CML），视网膜母细胞瘤，卵巢和子宫癌，以及生物学剂量测定描述了细胞遗传学研究的方法和试剂，用于细胞遗传学上相似但遗传上不同的疾病的分化，以及许多预后和诊断应用。

7. 再颁专利

USRE40929E1 Chromosome-specific staining to detect genetic rearrangements associated with chromosome 3 and/or chromosome 17 有权
标题翻译：染色体特异性染色以检测与染色体3和/或染色体17相关的遗传重排
公开(公告)号：USRE40929E1
公开(公告)日：2009-10-06
申请号：US11396221
申请日：2006-03-31
申请人： Joe W. Gray , Daniel Pinkel , Olli-Pekka Kallioniemi , Anne Kallioniemi , Masaru Sakamoto
发明人： Joe W. Gray , Daniel Pinkel , Olli-Pekka Kallioniemi , Anne Kallioniemi , Masaru Sakamoto
IPC分类号： C12Q1/68 , C07H21/00
CPC分类号： C12Q1/6879 , C12Q1/6827 , C12Q1/6841 , C12Q1/6876 , C12Q1/6886 , C12Q2563/107 , C12Q2563/131 , C12Q2525/151
摘要： Methods and compositions for staining based upon nucleic acid sequence that employ nudeic nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML), retinoblastoma, ovarian and uterine cancers, and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar but genetically different diseases, and for many prognostic and diagnostic applications.
摘要翻译：基于使用<？delete-start id =“DEL-S-00001”date =“20091006”？> nudeic <？delete-end id =“DEL-S-00001”？>的核酸序列进行染色的方法和组合物 <？insert-start id =“INS-S-00001”date =“20091006”？>核酸<？insert-end id =“INS-S-00001”？>酸性探针。所述方法产生可针对特定细胞遗传学分析进行定制的染色模式。所述探针适用于原位杂交并染色具有可靠信号的相间和中期染色体材料。核酸探针通常具有大于50kb的复杂度，其复杂性取决于细胞遗传学应用。提供方法和试剂用于检测遗传重排。探针和测试试剂盒用于检测遗传重排，特别是用于肿瘤细胞遗传学，用于检测疾病相关的基因座，特别是癌症，如慢性骨髓性白血病（CML），视网膜母细胞瘤，卵巢和子宫癌，以及生物学剂量测定描述了细胞遗传学研究的方法和试剂，用于细胞遗传学上相似但遗传上不同的疾病的分化，以及许多预后和诊断应用。

8. 发明授权

US5965362A Comparative genomic hybridization (CGH) 失效
公开(公告)号：US5965362A
公开(公告)日：1999-10-12
申请号：US562965
申请日：1995-11-27
申请人： Daniel Pinkel , Joe W. Gray , Anne Kallioniemi , Olli-Pekka Kallioniemi , Frederic Waldman , Masaru Sakamoto
发明人： Daniel Pinkel , Joe W. Gray , Anne Kallioniemi , Olli-Pekka Kallioniemi , Frederic Waldman , Masaru Sakamoto
IPC分类号： C12Q1/68 , G06F15/02 , A61K49/00 , C07H21/02 , C12P19/34
CPC分类号： C12Q1/6809 , C12Q1/6841 , C12Q1/6886 , G06F15/025 , C12Q2600/156 , Y10S436/813
摘要： Disclosed are new methods comprising the use of in situ hybridization to detect abnormal nucleic acid sequence copy numbers in one or more genomes wherein repetitive sequences that bind to multiple loci in a reference chromosome spread are either substantially removed and/or their hybridization signals suppressed. The invention termed Comparative Genomic Hybridization (CGH) provides for methods of determining the relative number of copies of nucleic acid sequences in one or more subject genomes or portions thereof (for example, a tumor cell) as a function of the location of those sequences in a reference genome (for example, a normal human genome). The intensity(ies) of the signals from each labeled subject nucleic acid and/or the differences in the ratios between different signals from the labeled subject nucleic acid sequences are compared to determine the relative copy numbers of the nucleic acid sequences in the one or more subject genomes as a function of position along the reference chromosome spread. Amplifications, duplications and/or deletions in the subject genome(s) can be detected. Also provided is a method of determining the absolute copy numbers of substantially all RNA or DNA sequences in subject cell(s) or cell population(s).

9. 发明授权

US07094534B2 Detection of chromosoal abnormalities associated with breast cancer 失效
标题翻译：检测与乳腺癌相关的染色体异常
公开(公告)号：US07094534B2
公开(公告)日：2006-08-22
申请号：US09912818
申请日：2001-07-24
申请人： Daniel Pinkel , Joe W. Gray , Anne Kallioniemi , Ollie-Pekka Kallioniemi , Frederic Waldman , Masaru Sakamoto
发明人： Daniel Pinkel , Joe W. Gray , Anne Kallioniemi , Ollie-Pekka Kallioniemi , Frederic Waldman , Masaru Sakamoto
IPC分类号： C12Q1/68 , C12P19/34 , C07H21/02
CPC分类号： C12Q1/6809 , C12Q1/6841 , C12Q1/6886 , C12Q2600/156 , G06F15/025 , Y10S436/813 , C12Q2545/114 , C12Q2537/157
摘要： Disclosed are new methods comprising the use of in situ hybridization to detect abnormal nucleic acid sequence copy numbers in one or more genomes wherein repetitive sequences that bind to multiple loci in a reference chromosome spread are either substantially removed and/or their hybridization signals suppressed. The invention termed Comparative Genomic Hybridization (CGH) provides for methods of determining the relative number of copies of nucleic acid sequences in one or more subject genomes or portions thereof (for example, a tumor cell) as a function of the location of those sequences in a reference genome (for example, a normal human genome). The intensity(ies) of the signals from each labeled subject nucleic acid and/or the differences in the ratios between different signals from the labeled subject nucleic acid sequences are compared to determine the relative copy numbers of the nucleic acid sequences in the one or more subject genomes as a function of position along the reference chromosome spread. Amplifications, duplications and/or deletions in the subject genome(s) can be detected. Also provided is a method of determining the absolute copy numbers of substantially all RNA or DNA sequences in subject cell(s) or cell population(s).
摘要翻译：公开了包括使用原位杂交来检测一个或多个基因组中的异常核酸序列拷贝数的新方法，其中结合参考染色体扩增的多个基因座的重复序列基本上被去除和/或其杂交信号被抑制。称为比较基因组杂交（CGH）的发明提供了确定一个或多个受试者基因组或其部分（例如肿瘤细胞）中核酸序列的相对拷贝数的方法，作为这些序列的位置的函数参考基因组（例如，正常人类基因组）。比较来自每个标记的对象核酸的信号的强度和/或来自标记的目标核酸序列的不同信号之间的比率差异，以确定一个或多个核酸序列中核酸序列的相对拷贝数主题基因组作为沿着参考染色体扩散的位置的函数。可以检测主题基因组中的扩增，重复和/或缺失。还提供了确定受试细胞或细胞群体中基本上所有RNA或DNA序列的绝对拷贝数的方法。

10. 发明授权

US5976790A Comparative Genomic Hybridization (CGH) 失效
标题翻译：比较基因组杂交（CGH）
公开(公告)号：US5976790A
公开(公告)日：1999-11-02
申请号：US565304
申请日：1995-11-27
申请人： Daniel Pinkel , Joe W. Gray , Anne Kallioniemi , Olli-Pekka Kallioniemi , Frederick Waldman , Masaru Sakamoto
发明人： Daniel Pinkel , Joe W. Gray , Anne Kallioniemi , Olli-Pekka Kallioniemi , Frederick Waldman , Masaru Sakamoto
IPC分类号： C12Q1/68 , G06F15/02 , C07H21/02 , C07H21/04 , C12P19/34
CPC分类号： C12Q1/6809 , C12Q1/6841 , C12Q1/6886 , G06F15/025 , C12Q2600/156 , Y10S436/813
摘要： Disclosed are new methods comprising the use of in situ hybridization to detect abnormal nucleic acid sequence copy numbers in one or more genomes wherein repetitive sequences that bind to multiple loci in a reference chromosome spread are either substantially removed and/or their hybridization signals suppressed. The invention termed Comparative Genomic Hybridization (CGH) provides for methods of determining the relative number of copies of nucleic acid sequences in one or more subject genomes or portions thereof (for example, a tumor cell) as a function of the location of those sequences in a reference genome (for example, a normal human genome). The intensity(ies) of the signals from each labeled subject nucleic acid and/or the differences in the ratios between different signals from the labeled subject nucleic acid sequences are compared to determine the relative copy numbers of the nucleic acid sequences in the one or more subject genomes as a function of position along the reference chromosome spread. Amplifications, duplications and/or deletions in the subject genome(s) can be detected. Also provided is a method of determining the absolute copy numbers of substantially all RNA or DNA sequences in subject cell(s) or cell population(s).
摘要翻译：公开了包括使用原位杂交来检测一个或多个基因组中的异常核酸序列拷贝数的新方法，其中结合参考染色体扩增的多个基因座的重复序列基本上被去除和/或其杂交信号被抑制。称为比较基因组杂交（CGH）的发明提供了确定一个或多个受试者基因组或其部分（例如肿瘤细胞）中核酸序列的相对拷贝数的方法，作为这些序列的位置的函数参考基因组（例如，正常人类基因组）。比较来自每个标记的对象核酸的信号的强度和/或来自标记的目标核酸序列的不同信号之间的比率差异，以确定一个或多个核酸序列中核酸序列的相对拷贝数主题基因组作为沿着参考染色体扩散的位置的函数。可以检测主题基因组中的扩增，重复和/或缺失。还提供了确定受试细胞或细胞群体中基本上所有RNA或DNA序列的绝对拷贝数的方法。

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