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    • 3. 发明申请
    • SET MEMBERSHIP TESTERS FOR ALIGNING NUCLEIC ACID SAMPLES
    • 用于对准核酸样品的成员测试仪
    • WO2013062856A1
    • 2013-05-02
    • PCT/US2012/060892
    • 2012-10-18
    • VERINATA HEALTH, INC.BLUME, Erich, D.BURKE, John, P.HUANG, Hui
    • BLUME, Erich, D.BURKE, John, P.HUANG, Hui
    • C12Q1/68G06F19/22
    • C40B30/02G06F19/22
    • Disclosed are methods and tools for rapidly aligning reads to a reference sequence. These methods and tools employ Bloom filters or similar set membership testers to perform the alignment. The reads may be short sequences of nucleic acids or other biological molecules and the reference sequences may be sequences of genomes, chromosomes, etc. The Bloom filters include a collection of hash functions, a bit array, and associated logic for applying reads to the filter. Each filter, and there may be multiple of these used in a particular application, is used to determine whether an applied read is present in a reference sequence. Each Bloom filter is associated with a single reference sequence such as the sequence of a particular chromosome. In one example, chromosomal abundance is determined by aligning reads from a sequencer to multiple chromosomes, each having an associated Bloom filter or other set membership tester.
    • 公开了用于将读取快速对准到参考序列的方法和工具。 这些方法和工具使用Bloom过滤器或类似的集成员测试器来执行对齐。 读取可以是核酸或其他生物分子的短序列,并且参考序列可以是基因组,染色体等的序列。Bloom过滤器包括哈希函数的集合,位阵列和用于将读取应用于过滤器的相关逻辑 。 每个过滤器,并且在特定应用中可以使用这些过滤器中的多个,用于确定在参考序列中是否存在应用的读取。 每个Bloom过滤器与单个参考序列相关联,例如特定染色体的序列。 在一个实例中,染色体丰度通过将来自测序仪的读数与多个染色体对齐来确定,每个染色体具有相关的Bloom过滤器或其他集合隶属度测试器。