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公开(公告)号：US20110281738A1
公开(公告)日：2011-11-17
申请号：US13098965
申请日：2011-05-02
CPC分类号： C12Q1/6837 , C12N15/1093 , C12Q1/682 , C12Q1/6869 , C12Q1/6874 , C12Q2531/125 , C12Q2525/313 , C12Q2525/151 , C12Q2521/313 , C12Q2565/513 , C12Q2521/307
摘要： The present invention provides methods of making and using self-assembled arrays of single polynucleotide molecules for carrying out a variety of large-scale genetic measurements, such as gene expression analysis, gene copy number assessment, and the like. Random arrays used in the invention are “self-assembled” in the sense that they are formed by deposition of polynucleotide molecules onto a surface where they become fixed at random locations. The polynucleotide molecules fixed on the surface are then identified by direct sequence determination of component nucleic acids, such as incorporated probe sequences, or by other decoding schemes. Such identification converts a random array of determinable polynucleotides, and their respective probes into an addressable array of probe sequences.
摘要翻译： 本发明提供制造和使用单个多核苷酸分子的自组装阵列进行各种大规模遗传测量的方法，例如基因表达分析，基因拷贝数评估等。 在本发明中使用的随机阵列是“自组装”的意思，即它们通过将多核苷酸分子沉积到其随机位置固定的表面上而形成。 然后通过直接序列测定组分核酸，例如并入的探针序列或其他解码方案来鉴定固定在表面上的多核苷酸分子。 这种鉴定将随机阵列的可测定多核苷酸及其各自的探针转换成可寻址的探针序列阵列。
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32.发明授权公开(公告)号：US07901891B2
公开(公告)日：2011-03-08
申请号：US12335168
申请日：2008-12-15
申请人： Radoje Drmanac
发明人： Radoje Drmanac
CPC分类号： C12Q1/6874 , C07H21/04 , C07K1/047 , C12Q1/6806 , C12Q1/682 , C12Q1/6837 , C12Q1/6869 , C12Q2525/151 , C12Q2525/313 , C12Q2531/125 , C12Q2565/513 , G01N15/1404 , G01N15/1434 , Y10S977/778 , Y10S977/789 , Y10S977/792 , Y10S977/88 , Y10S977/882 , C12Q2521/307 , C12Q2525/161 , C12Q2535/122 , C12Q2563/179 , C12Q2565/514
摘要： The invention provides methods and kits for ordering sequence information derived from one or more target polynucleotides. In one aspect, one or more tiers or levels of fragmentation and aliquoting are generated, after which sequence information is obtained from fragments in a final level or tier. Each fragment in such final tier is from a particular aliquot, which, in turn, is from a particular aliquot of a prior tier, and so on. For every fragment of an aliquot in the final tier, the aliquots from which it was derived at every prior tier is known, or can be discerned. Thus, identical sequences from overlapping fragments from different aliquots can be distinguished and grouped as being derived from the same or different fragments from prior tiers. When the fragments in the final tier are sequenced, overlapping sequence regions of fragments in different aliquots are used to register the fragments so that non-overlapping regions are ordered. In one aspect, this process is carried out in a hierarchical fashion until the one or more target polynucleotides are characterized, e.g. by their nucleic acid sequences, or by an ordering of sequence segments, or by an ordering of single nucleotide polymorphisms (SNPs), or the like.
摘要翻译： 本发明提供了用于排序从一个或多个目标多核苷酸衍生的序列信息的方法和试剂盒。 在一个方面，产生一个或多个分层或等级的碎片和等分试样，之后从最终级别或层级的片段获得序列信息。 这样的最后一层中的每个片段都来自特定的等分试样，而这些等分试样又是来自先前层的特定等分试样，等等。 对于最后一层中的等分试样的每个片段，从每个先前的层次派生的等分试样是已知的，或者可以被辨别出来。 因此，来自不同等分试样的重叠片段的相同序列可以被区分并分组为从与先前层相同或不同的片段衍生的。 当最终层中的片段被排序时，使用不同等分试样的片段的重叠序列区域来登记片段，使得非重叠区域被排序。 在一个方面，该方法以分级方式进行，直到一个或多个目标多核苷酸被表征为例如。 通过其核酸序列，或通过序列片段的排序，或通过单核苷酸多态性（SNP）等的排序。
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公开(公告)号：US07070927B2
公开(公告)日：2006-07-04
申请号：US10068301
申请日：2002-02-05
申请人： Radoje Drmanac
发明人： Radoje Drmanac
CPC分类号： C12Q1/6874
摘要： Disclosed are novel methods and compositions for rapid and highly efficient nucleic acid sequencing based upon hybridization with two sets of small oligonucleotide probes of known sequences. Extremely large nucleic acid molecules, including chromosomes and non-amplified RNA, may be sequenced without prior cloning or subcloning steps. The methods of the invention also solve various current problems associated with sequencing technology such as, for example, high noise to signal ratios and difficult discrimination, attaching many nucleic acid fragments to a surface, preparing many, longer or more complex probes and labelling more species.
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公开(公告)号：US09679103B2
公开(公告)日：2017-06-13
申请号：US13591723
申请日：2012-08-22
摘要： Haplotypes of one or more portions of a chromosome of an organism from sequencing information of DNA or RNA fragments can be determined. Heterozygous loci (hets) can be used to determine haplotypes. One allele on a first het can be connected (likely to be on the same haplotype) to an allele on a second het, thereby defining a particular orientation between the hets. Haplotypes can be assembled through these connections. Errors can be identified through redundant connection information, particularly using a confidence value (strength) for a particular connection. The connections among a set of hets can be analyzed to determine likely haplotypes for that set, e.g., an optimal tree of a graph containing the hets. Furthermore, haplotypes of different contiguous sections (contig) of the chromosome can be matched to a particular chromosome copy (e.g., to a particular parental copy). Thus, the phase of an entire chromosome can be determined.
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公开(公告)号：US20150379192A9
公开(公告)日：2015-12-31
申请号：US13447087
申请日：2012-04-13
IPC分类号： G06F19/22
CPC分类号： G06F19/22 , C12Q1/6869 , C12Q2537/159 , C12Q2549/10
摘要： The present invention is directed to logic for analysis of nucleic acid sequence data that employs algorithms that lead to a substantial improvement in sequence accuracy and that can be used to phase sequence variations, e.g., in connection with the use of the long fragment read (LFR) process.
摘要翻译： 本发明涉及用于分析核酸序列数据的逻辑，其使用导致序列精度的实质性改进并且可用于相序变化的算法，例如结合使用长片段读取（LFR ）过程。
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公开(公告)号：US08951731B2
公开(公告)日：2015-02-10
申请号：US12252280
申请日：2008-10-15
申请人： Radoje Drmanac , Snezana Drmanac
发明人： Radoje Drmanac , Snezana Drmanac
CPC分类号： C12Q1/6869 , C12Q1/6825 , C12Q1/6874 , C12Q2565/631 , C12Q2535/119 , C12Q2521/319
摘要： The present invention provides a sequence interrogation chemistry that combines the accuracy and haplotype integrity of long-read sequencing with improved methods of preparing genomic nucleic acids and analyzing sequence information generated from those nucleic acids. The present invention encompasses compositions comprising decorated nucleic acids stretched on substrates. The present invention further encompasses methods of making stretched decorated nucleic acids and methods of using decorated nucleic acids to obtain sequence information.
摘要翻译： 本发明提供了序列询问化学，其将长读取测序的准确度和单倍型完整性与改进的制备基因组核酸的方法和分析从这些核酸产生的序列信息相结合。 本发明包括包含在底物上拉伸的装饰的核酸的组合物。 本发明还包括制备延伸的装饰的核酸的方法和使用装饰的核酸获得序列信息的方法。
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公开(公告)号：US08609335B2
公开(公告)日：2013-12-17
申请号：US13098965
申请日：2011-05-02
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6837 , C12N15/1093 , C12Q1/682 , C12Q1/6869 , C12Q1/6874 , C12Q2531/125 , C12Q2525/313 , C12Q2525/151 , C12Q2521/313 , C12Q2565/513 , C12Q2521/307
摘要： The present invention provides methods of making and using self-assembled arrays of single polynucleotide molecules for carrying out a variety of large-scale genetic measurements, such as gene expression analysis, gene copy number assessment, and the like. Random arrays used in the invention are “self-assembled” in the sense that they are formed by deposition of polynucleotide molecules onto a surface where they become fixed at random locations. The polynucleotide molecules fixed on the surface are then identified by direct sequence determination of component nucleic acids, such as incorporated probe sequences, or by other decoding schemes. Such identification converts a random array of determinable polynucleotides, and their respective probes into an addressable array of probe sequences.
摘要翻译： 本发明提供制造和使用单个多核苷酸分子的自组装阵列进行各种大规模遗传测量的方法，例如基因表达分析，基因拷贝数评估等。 在本发明中使用的随机阵列是“自组装”的意思，即它们通过将多核苷酸分子沉积到其随机位置固定的表面上而形成。 然后通过直接序列测定组分核酸，例如并入的探针序列或其他解码方案来鉴定固定在表面上的多核苷酸分子。 这种鉴定将随机阵列的可测定多核苷酸及其各自的探针转换成可寻址的探针序列阵列。
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公开(公告)号：US08445194B2
公开(公告)日：2013-05-21
申请号：US11451691
申请日：2006-06-13
CPC分类号： C12Q1/6874 , C07H21/04 , C07K1/047 , C12Q1/6806 , C12Q1/682 , C12Q1/6837 , C12Q1/6869 , C12Q2525/151 , C12Q2525/313 , C12Q2531/125 , C12Q2565/513 , G01N15/1404 , G01N15/1434 , Y10S977/778 , Y10S977/789 , Y10S977/792 , Y10S977/88 , Y10S977/882 , C12Q2521/307 , C12Q2525/161 , C12Q2535/122 , C12Q2563/179 , C12Q2565/514
摘要： Random arrays of single molecules are provided for carrying out large scale analyses, particularly of biomolecules, such as genomic DNA, cDNAs, proteins, and the like. In one aspect, arrays of the invention comprise concatemers of DNA fragments that are randomly disposed on a regular array of discrete spaced apart regions, such that substantially all such regions contain no more than a single concatemer. Preferably, such regions have areas substantially less than 1 μm2 and have nearest neighbor distances that permit optical resolution of on the order of 109 single molecules per cm2. Many analytical chemistries can be applied to random arrays of the invention, including sequencing by hybridization chemistries, sequencing by synthesis chemistries, SNP detection chemistries, and the like, to greatly expand the scale and potential applications of such techniques.
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公开(公告)号：US20130054151A1
公开(公告)日：2013-02-28
申请号：US13591723
申请日：2012-08-22
IPC分类号： G06F19/18
摘要： Haplotypes of one or more portions of a chromosome of an organism from sequencing information of DNA or RNA fragments can be determined. Heterozygous loci (hets) can be used to determine haplotypes. One allele on a first het can be connected (likely to be on the same haplotype) to an allele on a second het, thereby defining a particular orientation between the hets. Haplotypes can be assembled through these connections. Errors can be identified through redundant connection information, particularly using a confidence value (strength) for a particular connection. The connections among a set of hets can be analyzed to determine likely haplotypes for that set, e.g., an optimal tree of a graph containing the hets. Furthermore, haplotypes of different contiguous sections (contig) of the chromosome can be matched to a particular chromosome copy (e.g., to a particular parental copy). Thus, the phase of an entire chromosome can be determined.
摘要翻译： 可以测定生物体的染色体的一个或多个部分的单倍型，从DNA或RNA片段的测序信息。 杂合基因座（hets）可用于确定单元型。 第一次的一个等位基因可以连接（可能在相同的单倍型上）到第二个等位基因上，从而在ert之间定义一个特定的取向。 单体可以通过这些连接组装。 可以通过冗余连接信息识别错误，特别是使用特定连接的置信度值（强度）。 可以分析一组ts之间的连接以确定该集合的可能单倍型，例如包含he a的图的最佳树。 此外，染色体的不同连续切片（contig）的单元型可以与特定染色体拷贝（例如，特定的亲本拷贝）匹配。 因此，可以确定整个染色体的相位。
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公开(公告)号：US08298768B2
公开(公告)日：2012-10-30
申请号：US12325922
申请日：2008-12-01
申请人： Radoje Drmanac , Clifford Reid
发明人： Radoje Drmanac , Clifford Reid
CPC分类号： C12Q1/6869 , C12Q1/6874 , C12Q2549/119 , C12Q2537/149 , C12Q2565/137
摘要： Methods are provided for efficient shotgun sequencing to allow efficient selection and sequencing of nucleic acids of interest contained in a library. The nucleic acids of interest can be defined any time before or after preparation of the library. One example of nucleic acids of interest is missing or low confidence genome sequences resulting from an initial sequencing procedure. Other nucleic acids of interest include subsets of genomic DNA, RNA or cDNAs (exons, genes, gene sets, transciptomes). By designing an efficient (simple to implement, speedy, high specificity, low cost) selection procedure, a more complete sequence is achieved with less effort than by using highly redundant shotgun sequencing in an initial sequencing procedure.
摘要翻译： 提供了有效的霰弹枪测序的方法，以允许文库中包含的感兴趣的核酸的有效选择和测序。 感兴趣的核酸可以在文库制备之前或之后的任何时间进行定义。 感兴趣的核酸的一个实例是由初始测序程序产生的缺失或低置信基因组序列。 感兴趣的其他核酸包括基因组DNA，RNA或cDNAs（外显子，基因，基因组，转录本）的子集。 通过设计一种高效（简单易于实施，快速，高特异性，低成本）选择程序，通过在初始测序程序中使用高度冗余的霰弹枪测序，以更少的努力实现更完整的顺序。
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