NUCLEIC ACID, BIOMOLECULE AND POLYMER IDENTIFIER CODES
    1.
    发明申请
    NUCLEIC ACID, BIOMOLECULE AND POLYMER IDENTIFIER CODES 审中-公开
    核酸,生物分子和聚合物鉴定码

    公开(公告)号:WO2011100617A3

    公开(公告)日:2012-03-15

    申请号:PCT/US2011024631

    申请日:2011-02-11

    Abstract: Provided herein are systems, compositions and methods for tracking, sorting and/or identifying sample polynucleotides using nucleic acid barcodes. The barcodes provided herein are oligonucleotides that are designed to be uniquely identifiable. The nucleic acid barcodes have properties that permit them to be sequenced with high accuracy and/or reduced error rates. In some embodiments, the nucleic acid barcodes are designed to have certain nucleotide sequences that make up overlapping dibase color positions (also called color positions). The order of the overlapping dibase color positions can be determined using fluorophore-encoded dibase probes in a fluorophore color calling scheme to give high fidelity reads.

    Abstract translation: 本文提供了使用核酸条形码跟踪,分选和/或鉴定样品多核苷酸的系统,组合物和方法。 本文提供的条形码是被设计为唯一可识别的寡核苷酸。 核酸条形码具有允许它们以高精度和/或降低的错误率进行排序的性质。 在一些实施方案中,将核酸条形码设计为具有构成重叠二碱基色位置(也称为颜色位置)的某些核苷酸序列。 可以使用荧光团编码的二酶探针在荧光团颜色调用方案中确定重叠二碱基色素位置的顺序,以提供高保真读数。

    COMPUTATIONAL METHODS FOR TRANSLATING A SEQUENCE OF MULTI-BASE COLOR CALLS TO A SEQUENCE OF BASES
    2.
    发明申请
    COMPUTATIONAL METHODS FOR TRANSLATING A SEQUENCE OF MULTI-BASE COLOR CALLS TO A SEQUENCE OF BASES 审中-公开
    用于将多基色颜色调用序列转换为基数序列的计算方法

    公开(公告)号:WO2011143525A3

    公开(公告)日:2012-04-19

    申请号:PCT/US2011036393

    申请日:2011-05-13

    CPC classification number: C12Q1/6869 G06F19/22 C12Q2535/131 C12Q2565/1025

    Abstract: Disclosed are systems and methods for resequencing using color calls. A DNA sample is encoded and sequenced according to a multi-base code producing a string of read color calls for a fragment of the sample. A reference sequence is obtained. The string of read color calls is mapped to the reference sequence. A base sequence is extracted from the reference sequence. The base sequence is encoded as a string of reference color codes according to the multi-base code. The string of read color calls is aligned with the string of reference color codes and mismatches in the alignment are detected. One or more mismatches of the string of read color calls are annotated as inconsistent. The one or more inconsistent mismatches of the string of read color calls are corrected. The string of corrected read color calls is decoded to bases producing a read sequence.

    Abstract translation: 公开了使用颜色调用重新测序的系统和方法。 DNA样本根据多基因码进行编码和排序,产生样本片段的一系列读取颜色调用。 得到参考序列。 读取颜色调用的字符串映射到参考序列。 从参考序列中提取碱基序列。 基本序列根据多基本码被编码为参考颜色码串。 读取颜色调用的字符串与参考颜色代码的字符串对齐,并且检测到对齐中的不匹配。 读取颜色调用字符串的一个或多个不匹配被注释为不一致。 读取颜色调用串的一个或多个不一致的不匹配被更正。 将经校正的读取颜色调用的字符串解码为产生读取序列的基准。

    SYSTEMS AND METHODS FOR IDENTIFYING EXON JUNCTIONS
    4.
    发明申请
    SYSTEMS AND METHODS FOR IDENTIFYING EXON JUNCTIONS 审中-公开
    用于识别EXON JUNCTIONS的系统和方法

    公开(公告)号:WO2011137356A3

    公开(公告)日:2012-03-01

    申请号:PCT/US2011034592

    申请日:2011-04-29

    CPC classification number: G06F19/22

    Abstract: Systems and methods are used to identify an exon junction from a single read of a transcript. A transcript sample is interrogated and a read sequence is produced using a nucleic acid sequencer. A first exon sequence and a second exon sequence are obtained using the processor. The first exon sequence is mapped to a prefix of the read sequence using the processor. The second exon sequence is mapped to a suffix of the read sequence using the processor. A sum of a number of sequence elements of the first exon sequence that overlap the prefix of the read sequence, of a number of sequence elements of the second exon sequence that overlap the suffix of the read sequence, and of a constant is calculated using the processor. If the sum equals a length of the read sequence, a junction is identified in the read using the processor.

    Abstract translation: 系统和方法用于从单次阅读誊本中鉴定外显子结。 询问转录物样品,并使用核酸测序仪产生读序列。 使用处理器获得第一外显子序列和第二外显子序列。 使用处理器将第一个外显子序列映射到读取序列的前缀。 第二个外显子序列使用处理器映射到读序列的后缀。 与第一外显子序列的重叠序列的序列的多个序列元素的总和,与读取序列的后缀重叠的第二外显子序列的多个序列元件的数量以及常数的序列元素的总和,使用 处理器。 如果总和等于读取序列的长度,则使用处理器在读取中识别结。

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