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GTRAC: fast retrieval from compressed collections of genomic variants

机译:GTRAC:从基因组变体的压缩集合中快速检索

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Motivation: The dramatic decrease in the cost of sequencing has resulted in the generation of huge amounts of genomic data, as evidenced by projects such as the UK10K and the Million Veteran Project, with the number of sequenced genomes ranging in the order of 10 K to 1 M. Due to the large redundancies among genomic sequences of individuals from the same species, most of the medical research deals with the variants in the sequences as compared with a reference sequence, rather than with the complete genomic sequences. Consequently, millions of genomes represented as variants are stored in databases. These databases are constantly updated and queried to extract information such as the common variants among individuals or groups of individuals. Previous algorithms for compression of this type of databases lack efficient random access capabilities, rendering querying the database for particular variants and/or individuals extremely inefficient, to the point where compression is often relinquished altogether.
机译:动机:测序成本的急剧下降已导致生成大量的基因组数据,如UK10K和Million Veteran Project等项目所证明的那样,测序的基因组数量约为10 K至1M。由于来自同一物种的个体的基因组序列之间存在大量冗余,因此与参考序列相比,大多数医学研究处理的是序列中的变异,而不是完整的基因组序列。因此,数百万个代表变异的基因组被存储在数据库中。这些数据库不断更新和查询以提取信息,例如个人或个人组之间的常见变体。用于这种类型的数据库的压缩的先前算法缺乏有效的随机访问能力,使得查询数据库中的特定变体和/或个体效率极低,以至于压缩常常被完全放弃。

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