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1. 发明授权

US08467976B2 Fetal genomic analysis from a maternal biological sample 有权
标题翻译：母体生物样品的胎儿基因组分析
公开(公告)号：US08467976B2
公开(公告)日：2013-06-18
申请号：US12940993
申请日：2010-11-05
申请人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Charles Cantor
发明人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Charles Cantor
IPC分类号： G06F19/00 , C12Q1/68 , G11C17/00
CPC分类号： C12Q1/6876 , C12Q1/6827 , G06F19/18 , G06F19/22 , G06F19/24 , Y10T436/143333 , C12Q2537/165 , C12Q2535/101 , C12Q2527/125
摘要： Systems, methods, and apparatus for determining at least a portion of fetal genome are provided. DNA fragments from a maternal sample (maternal and fetal DNA) can be analyzed to identify alleles at certain loci. The amounts of DNA fragments of the respective alleles at these loci can be analyzed together to determine relative amounts of the haplotypes for these loci and determine which haplotypes have been inherited from the parental genomes. Loci where the parents are a specific combination of homozygous and heterozygous can be analyzed to determine regions of the fetal genome. Reference haplotypes common in the population can be used along with the analysis of the DNA fragments of the maternal sample to determine the maternal and paternal genomes. Determination of mutations, a fractional fetal DNA concentration in a maternal sample, and a proportion of coverage of a sequencing of the maternal sample can also be provided.
摘要翻译：提供了用于确定胎儿基因组的至少一部分的系统，方法和装置。可以分析来自母体样品（母体和胎儿DNA）的DNA片段，以鉴定某些位点处的等位基因。可以一起分析在这些位点处各个等位基因的DNA片段的量，以确定这些基因座的单倍型的相对量，并确定哪些单元型已经从亲代基因组遗传。可以分析父母是纯合子和杂合子的特异性组合的位点，以确定胎儿基因组的区域。可以在群体中常见的参考单倍型与母体样品的DNA片段的分析一起使用，以确定母体和父系的基因组。也可以提供母体样品中突变的确定，胎儿DNA分数的分数以及母体样品测序的覆盖率。

2. 发明申请

US20110105353A1 Fetal Genomic Analysis From A Maternal Biological Sample 有权
标题翻译：胎儿生物样品的胎儿基因组分析
公开(公告)号：US20110105353A1
公开(公告)日：2011-05-05
申请号：US12940993
申请日：2010-11-05
申请人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Charles Cantor
发明人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Charles Cantor
IPC分类号： G01N33/53 , G01N33/48 , C12Q1/68
CPC分类号： C12Q1/6876 , C12Q1/6827 , G06F19/18 , G06F19/22 , G06F19/24 , Y10T436/143333 , C12Q2537/165 , C12Q2535/101 , C12Q2527/125
摘要： Systems, methods, and apparatus for determining at least a portion of fetal genome are provided. DNA fragments from a maternal sample (maternal and fetal DNA) can be analyzed to identify alleles at certain loci. The amounts of DNA fragments of the respective alleles at these loci can be analyzed together to determine relative amounts of the haplotypes for these loci and determine which haplotypes have been inherited from the parental genomes. Loci where the parents are a specific combination of homozygous and heterozygous can be analyzed to determine regions of the fetal genome. Reference haplotypes common in the population can be used along with the analysis of the DNA fragments of the maternal sample to determine the maternal and paternal genomes. Determination of mutations, a fractional fetal DNA concentration in a maternal sample, and a proportion of coverage of a sequencing of the maternal sample can also be provided.
摘要翻译：提供了用于确定胎儿基因组的至少一部分的系统，方法和装置。可以分析来自母体样品（母体和胎儿DNA）的DNA片段，以鉴定某些位点处的等位基因。可以一起分析在这些位点处各个等位基因的DNA片段的量，以确定这些基因座的单倍型的相对量，并确定哪些单元型已经从亲代基因组遗传。可以分析父母是纯合子和杂合子的特异性组合的位点，以确定胎儿基因组的区域。可以在群体中常见的参考单倍型与母体样品的DNA片段的分析一起使用，以确定母体和父系的基因组。也可以提供母体样品中突变的确定，胎儿DNA分数的分数以及母体样品测序的覆盖率。

3. 发明授权

US10152568B2 Noninvasive prenatal genotyping of fetal sex chromosomes 有权
公开(公告)号：US10152568B2
公开(公告)日：2018-12-11
申请号：US13978358
申请日：2012-01-05
申请人： Yuk Ming Dennis Lo , Wai Kwun Rossa Chiu , Kwan Chee Chan , Bo Yin Tsui
发明人： Yuk Ming Dennis Lo , Wai Kwun Rossa Chiu , Kwan Chee Chan , Bo Yin Tsui
IPC分类号： G06F19/18 , C12Q1/6883
摘要： Methods, apparatuses, and system are provided for analyzing a maternal sample to determine whether a male fetus of a pregnant female has inherited an X-linked mutation from the mother. A percentage of fetal DNA in the sample is obtained, and cutoff values for the two possibilities (fetus inherits mutant or normal allele) are determined. A proportion of mutant alleles relative to a normal allele on the X-chromosome can then be compared to the cutoff values to make a classification of which allele is inherited. Alternatively, a number of alleles from a target region on the X-chromosome can be compared to a number of alleles from a reference region on the X-chromosome to identify a deletion or amplification. The fetal DNA percentage can be computed by counting reactions with a fetal-specific allele, and correcting the number to account for a statistical distribution among the reactions.

4. 发明授权

US08741811B2 Detection of genetic or molecular aberrations associated with cancer 有权
标题翻译：检测与癌症相关的遗传或分子畸变
公开(公告)号：US08741811B2
公开(公告)日：2014-06-03
申请号：US13308473
申请日：2011-11-30
申请人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Peiyong Jiang
发明人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Peiyong Jiang
IPC分类号： C40B30/02 , C12Q1/68 , G06F19/18
CPC分类号： G06F19/22 , C12Q1/6809 , C12Q1/6869 , C12Q1/6886 , C12Q2600/156 , C12Q2600/172 , G06F19/18 , C12Q2535/122 , C12Q2537/165 , C12Q2545/114
摘要： Biological samples including cell-free DNA fragments are analyzed to identify imbalances in chromosomal regions, e.g., due to deletions and/or amplifications in a tumor. Multiple loci are used for each chromosomal region. Such imbalances can then be used to diagnose (screen) a patient for cancer, as well as prognosticate a patient with cancer, or to detect the presence or to monitor the progress of a premalignant condition in a patient. The severity of an imbalance as well as the number of regions exhibiting an imbalance can be used. A systematic analysis of non-overlapping segments of a genome can provide a general screening tool for a sample. Additionally, a patient can be tested over time to track severity of each of one or more chromosomal regions and a number of chromosomal regions to enable screening and prognosticating, as well as monitoring of progress (e.g. after treatment).
摘要翻译：分析包括无细胞DNA片段的生物样品，以鉴定染色体区域中的不平衡，例如由于肿瘤中的缺失和/或扩增。每个染色体区域使用多个基因座。然后可以将这种不平衡用于诊断（筛选）患者癌症，以及预测患有癌症的患者，或者检测病人的存在或监测恶化前状况的进展情况。可以使用不平衡的严重性以及表现出不平衡的区域的数量。对基因组的非重叠片段的系统分析可以为样品提供一般的筛选工具。此外，可以随时间测试患者以跟踪一个或多个染色体区域和多个染色体区域中的每一个的严重性，以使得能够进行筛选和预测，以及监测进展（例如，治疗后）。

5. 发明授权

US08620593B2 Size-based genomic analysis 有权
标题翻译：基于大小的基因组分析
公开(公告)号：US08620593B2
公开(公告)日：2013-12-31
申请号：US12940992
申请日：2010-11-05
申请人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Wenli Zheng
发明人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Wenli Zheng
IPC分类号： G06F19/00 , G11C17/00 , C12Q1/68
CPC分类号： C12Q1/6809 , C12Q1/6883 , C12Q2600/112 , C12Q2600/156 , C12Q2600/172 , G06F19/18
摘要： Systems, methods, and apparatuses for performing a prenatal diagnosis of a sequence imbalance are provided. A shift (e.g. to a smaller size distribution) can signify an imbalance in certain circumstances. For example, a size distribution of fragments of nucleic acids from an at-risk chromosome can be used to determine a fetal chromosomal aneuploidy. A size ranking of different chromosomes can be used to determine changes of a rank of an at-risk chromosome from an expected ranking. Also, a difference between a statistical size value for one chromosome can be compared to a statistical size value of another chromosome to identify a significant shift in size. A genotype and haplotype of the fetus may also be determined using a size distribution to determine whether a sequence imbalance occurs in a maternal sample relative to a genotypes or haplotype of the mother, thereby providing a genotype or haplotype of the fetus.
摘要翻译：提供了用于执行序列不平衡的产前诊断的系统，方法和装置。在某些情况下，偏移（例如，到更小的分布）可以表示不平衡。例如，可以使用来自高危染色体的核酸片段的大小分布来确定胎儿染色体非整倍体。可以使用不同染色体的大小排序来从预期排名中确定危险染色体的等级的变化。而且，一个染色体的统计大小值之间的差异可以与另一个染色体的统计大小值进行比较，以确定大小的显着变化。也可以使用大小分布来确定胎儿的基因型和单倍型，以确定相对于母体的基因型或单倍型，母体样品中是否发生序列不平衡，从而提供胎儿的基因型或单倍型。

6. 发明申请

US20110276277A1 SIZE-BASED GENOMIC ANALYSIS 有权
标题翻译：基于大小的基因分析
公开(公告)号：US20110276277A1
公开(公告)日：2011-11-10
申请号：US12940992
申请日：2010-11-05
申请人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Wenli Zheng
发明人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Wenli Zheng
IPC分类号： G06F19/18 , G06F19/10
CPC分类号： C12Q1/6809 , C12Q1/6883 , C12Q2600/112 , C12Q2600/156 , C12Q2600/172 , G06F19/18
摘要： Systems, methods, and apparatuses for performing a prenatal diagnosis of a sequence imbalance are provided. A shift (e.g. to a smaller size distribution) can signify an imbalance in certain circumstances. For example, a size distribution of fragments of nucleic acids from an at-risk chromosome can be used to determine a fetal chromosomal aneuploidy. A size ranking of different chromosomes can be used to determine changes of a rank of an at-risk chromosome from an expected ranking. Also, a difference between a statistical size value for one chromosome can be compared to a statistical size value of another chromosome to identify a significant shift in size. A genotype and haplotype of the fetus may also be determined using a size distribution to determine whether a sequence imbalance occurs in a maternal sample relative to a genotypes or haplotype of the mother, thereby providing a genotype or haplotype of the fetus.
摘要翻译：提供了用于执行序列不平衡的产前诊断的系统，方法和装置。在某些情况下，偏移（例如，到更小的分布）可以表示不平衡。例如，可以使用来自高危染色体的核酸片段的大小分布来确定胎儿染色体非整倍体。可以使用不同染色体的大小排序来从预期排名中确定危险染色体的等级的变化。而且，一个染色体的统计大小值之间的差异可以与另一个染色体的统计大小值进行比较，以确定大小的显着变化。也可以使用大小分布来确定胎儿的基因型和单倍型，以确定相对于母体的基因型或单倍型，母体样品中是否发生序列不平衡，从而提供胎儿的基因型或单倍型。

7. 发明申请

US20130040824A1 DETECTION OF GENETIC OR MOLECULAR ABERRATIONS ASSOCIATED WITH CANCER 有权
标题翻译：检测与癌症相关的遗传或分子遗传异常
公开(公告)号：US20130040824A1
公开(公告)日：2013-02-14
申请号：US13308473
申请日：2011-11-30
申请人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Peiyong Jiang
发明人： Yuk Ming Dennis Lo , Kwan Chee Chan , Wai Kwun Rossa Chiu , Peiyong Jiang
IPC分类号： C40B20/00 , C12Q1/68 , G06F19/00 , C40B30/04
CPC分类号： G06F19/22 , C12Q1/6809 , C12Q1/6869 , C12Q1/6886 , C12Q2600/156 , C12Q2600/172 , G06F19/18 , C12Q2535/122 , C12Q2537/165 , C12Q2545/114
摘要： Biological samples including cell-free DNA fragments are analyzed to identify imbalances in chromosomal regions, e.g., due to deletions and/or amplifications in a tumor. Multiple loci are used for each chromosomal region. Such imbalances can then be used to diagnose (screen) a patient for cancer, as well as prognosticate a patient with cancer, or to detect the presence or to monitor the progress of a premalignant condition in a patient. The severity of an imbalance as well as the number of regions exhibiting an imbalance can be used. A systematic analysis of non-overlapping segments of a genome can provide a general screening tool for a sample. Additionally, a patient can be tested over time to track severity of each of one or more chromosomal regions and a number of chromosomal regions to enable screening and prognosticating, as well as monitoring of progress (e.g. after treatment).
摘要翻译：分析包括无细胞DNA片段的生物样品，以鉴定染色体区域中的不平衡，例如由于肿瘤中的缺失和/或扩增。每个染色体区域使用多个基因座。然后可以将这种不平衡用于诊断（筛选）患者癌症，以及预测患有癌症的患者，或者检测病人的存在或监测恶化前状况的进展情况。可以使用不平衡的严重性以及表现出不平衡的区域的数量。对基因组的非重叠片段的系统分析可以为样品提供一般的筛选工具。此外，可以随时间测试患者以跟踪一个或多个染色体区域和多个染色体区域中的每一个的严重性，以使得能够进行筛选和预测，以及监测进展（例如，治疗后）。

8. 发明授权

US08748100B2 Methods and kits for selectively amplifying, detecting or quantifying target DNA with specific end sequences 有权
标题翻译：用于选择性扩增，检测或定量具有特定末端序列的靶DNA的方法和试剂盒
公开(公告)号：US08748100B2
公开(公告)日：2014-06-10
申请号：US11897654
申请日：2007-08-30
申请人： Yuk Ming Dennis Lo , Yu Kwan Tong , Wai Kwun Rossa Chiu , Chunming Ding
发明人： Yuk Ming Dennis Lo , Yu Kwan Tong , Wai Kwun Rossa Chiu , Chunming Ding
IPC分类号： C12Q1/68 , C07H21/04 , C12N9/16
CPC分类号： C12Q1/686 , C12Q2525/301 , C12Q2521/331
摘要： Disclosed herein are methods and kits for selectively amplifying, detecting or quantifying a DNA fragment with a specific end sequence, especially generated following restriction enzyme digestion. This method can be used, for example, to detect a hypomethylated DNA fragment. This methods and kits are especially useful in detecting or quantifying a hypomethylated fetal DNA fragment in a maternal plasma sample containing a corresponding hypermethylated maternal DNA fragment.
摘要翻译：本文公开了用于选择性扩增，检测或定量具有特异末端序列的DNA片段的方法和试剂盒，特别是在限制酶消化后产生。该方法可用于例如检测低甲基化DNA片段。该方法和试剂盒特别可用于检测或定量含有相应的高甲基化母体DNA片段的母体血浆样品中的低甲基化胎儿DNA片段。

9. 发明申请

US20090061425A1 Methods and kits for selectively amplifying, detecting or quantifying target DNA with specific end sequences 有权
标题翻译：用于选择性扩增，检测或定量具有特定末端序列的靶DNA的方法和试剂盒
公开(公告)号：US20090061425A1
公开(公告)日：2009-03-05
申请号：US11897654
申请日：2007-08-30
申请人： Yuk Ming Dennis Lo , Yu Kwan Tong , Wai Kwun Rossa Chiu , Chunming Ding
发明人： Yuk Ming Dennis Lo , Yu Kwan Tong , Wai Kwun Rossa Chiu , Chunming Ding
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： C12Q1/686 , C12Q2525/301 , C12Q2521/331
摘要： Disclosed herein are methods and kits for selectively amplifying, detecting or quantifying a DNA fragment with a specific end sequence, especially generated following restriction enzyme digestion. This method can be used, for example, to detect a hypomethylated DNA fragment. This methods and kits are especially useful in detecting or quantifying a hypomethylated fetal DNA fragment in a maternal plasma sample containing a corresponding hypermethylated maternal DNA fragment.
摘要翻译：本文公开了用于选择性扩增，检测或定量具有特异末端序列的DNA片段的方法和试剂盒，特别是在限制酶消化后产生。该方法可用于例如检测低甲基化DNA片段。该方法和试剂盒特别可用于检测或定量含有相应的高甲基化母体DNA片段的母体血浆样品中的低甲基化胎儿DNA片段。

10. 发明申请

US20080286756A1 COMPOSITIONS AND METHODS FOR DIAGNOSING AND TREATING SEVERE ACUTE RESPIRATORY SYNDROME (SARS) 审中-公开
标题翻译：用于诊断和治疗严重急性呼吸道综合征（SARS）的组合物和方法
公开(公告)号：US20080286756A1
公开(公告)日：2008-11-20
申请号：US12062457
申请日：2008-04-03
申请人： Kwok Wing TSUI , Kwok Pui Fung , Mary Miu Yee Waye , Yuk Ming Dennis Lo , Siu Chung Stephen Chim , Wai Kwun Rossa Chiu , Siu Lun John Tam , Kay Sheung Paul Chan
发明人： Kwok Wing TSUI , Kwok Pui Fung , Mary Miu Yee Waye , Yuk Ming Dennis Lo , Siu Chung Stephen Chim , Wai Kwun Rossa Chiu , Siu Lun John Tam , Kay Sheung Paul Chan
IPC分类号： C12Q1/70
CPC分类号： C07K14/005 , A61K39/00 , A61K2039/53 , C12N2770/20022
摘要： The present invention relates to the fields of immunochemistry and pharmacology. Methods and compositions are described for the diagnosis and treatment of SARS CoV infection. More specifically, the application discloses nucleic acids and peptides of the spike glycoprotein of SARS CoV that provide prognostic and therapeutic compositions in treatment of individuals contracting, or in danger of contracting SARS CoV. The peptides of the invention are also useful in producing antibodies against the SARS CoV glycoprotein.
摘要翻译：本发明涉及免疫化学和药理学领域。描述了SARS CoV感染的诊断和治疗方法和组成。更具体地，该申请公开了SARS CoV的尖峰糖蛋白的核酸和肽，其提供治疗个体的预后和治疗组合物，这些个体承受或承受SARS CoV的危险。本发明的肽也可用于产生针对SARS CoV糖蛋白的抗体。

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