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    • 1. 发明申请
    • ACCURATE COMPARISON AND VALIDATION OF SINGLE NUCLEOTIDE VARIANTS
    • 准确的比较和验证单核苷酸变体
    • US20130245958A1
    • 2013-09-19
    • US13795492
    • 2013-03-12
    • Michael FORSTERAndre FRANKEAndreas KELLER
    • Michael FORSTERAndre FRANKEAndreas KELLER
    • G06F19/22
    • G16B30/00
    • A method is disclosed for validation of single nucleotide variants (SNV) in a sequence of interest. In at least one embodiment, the method includes: interrogating a BAM-file of the sequence of interest and a reference sequence file and producing a summary table for genomic coordinates of interest; generating a plurality of sequence reads from a sample of said sequence of interest; filtering sequence reads using a plurality of filter levels; extracting SNV counts for each strand for a genomic region of interest within the sequence of interest, resulting in ten SNV counts; for each genomic region of interest determining a rule based genotype decision and inferring a best genotype from the 10 counts; and creating a single consensus file for said sequence of interest including information of best genotype and a best quality for each genomic region of interest.
    • 公开了一种在感兴趣的序列中验证单核苷酸变体(SNV)的方法。 在至少一个实施例中,所述方法包括:询问感兴趣序列的BAM文件和参考序列文件,并产生用于感兴趣的基因组坐标的汇总表; 从所述感兴趣的序列的样本生成多个序列读数; 过滤序列使用多个滤波器级别读取; 提取感兴趣序列中感兴趣的基因组区域的每条链的SNV计数,得到十个SNV计数; 对于每个感兴趣的基因组区域,确定基于规则的基因型决定并从10个计数推断最佳基因型; 以及为所述感兴趣的序列创建单一的共同文件,包括针对感兴趣的每个基因组区域的最佳基因型和最佳质量的信息。
    • 3. 发明申请
    • Methods, Apparatuses, and Computer-Readable Media for Computing Checksums for Effective Caching in Continuous Distributed Builds
    • 用于在连续分布式构建中有效缓存的计算校验和的方法,设备和计算机可读介质
    • US20130111440A1
    • 2013-05-02
    • US13284432
    • 2011-10-28
    • Michael FORSTERUlf ADAMSSteffi SCHERZINGERChristian Karl KEMPER
    • Michael FORSTERUlf ADAMSSteffi SCHERZINGERChristian Karl KEMPER
    • G06F9/45G06F9/44
    • G06F8/71G06F8/70
    • Methods, systems, and computer-readable media for determining whether dependencies of configuration files have changed such that the compilation strategy should be recomputed. Local build checksums are computed for individual configuration files. The local build checksums are computed by sorting input paths to the configuration files plus data indicating whether the path refers to a file or a directory and a checksum computed on the configuration file itself. The transitive closure of local build checksums are then used to compute a global build checksum: the local build checksums are sorted in order to compute the global build checksum. If the global build checksum is different from a previously computed global build checksum, then the compilation strategy should be recomputed, since this is a signal that the compilation strategy may not be valid anymore, e.g. because some dependencies in the configuration files have changed.
    • 用于确定配置文件的依赖性是否已改变的方法,系统和计算机可读介质,以便重新计算编译策略。 为单个配置文件计算本地构建校验和。 本地构建校验和通过将配置文件的输入路径排序,以及指示路径是引用文件还是目录以及在配置文件本身计算的校验和的数据来计算。 然后使用本地构建校验和的传递闭包来计算全局构建校验和:对本地构建校验和进行排序以计算全局构建校验和。 如果全局构建校验和与先前计算的全局构建校验和不同,则应重新计算编译策略,因为这是编译策略可能不再有效的信号,例如, 因为配置文件中的某些依赖关系已更改。