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The exceptional genomic word symmetry along DNA sequences

机译:DNA序列中异常的基因组单词对称性

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The second Chargaff’s parity rule and its extensions are recognized as universal phenomena in DNA sequences. However, parity of the frequencies of reverse complementary oligonucleotides could be a mere consequence of the single nucleotide parity rule, if nucleotide independence is assumed. Exceptional symmetry (symmetry beyond that expected under an independent nucleotide assumption) was proposed previously as a meaningful measure of the extension of the second parity rule to oligonucleotides. The global exceptional symmetry was detected in long and short genomes. To explore the exceptional genomic word symmetry along the genome sequences, we propose a sliding window method to extract the values of exceptional symmetry (for all words or by word groups). We compare the exceptional symmetry effect size distribution in all human chromosomes against control scenarios (positive and negative controls), testing the differences and performing a residual analysis. We explore local exceptional symmetry in equivalent composition word groups, and find that the behaviour of the local exceptional symmetry depends on the word group. We conclude that the exceptional symmetry is a local phenomenon in genome sequences, with distinct characteristics along the sequence of each chromosome. The local exceptional symmetry along the genomic sequences shows outlying segments, and those segments have high biological annotation density.
机译:第二个Chargaff的奇偶规则及其扩展被认为是DNA序列中的普遍现象。但是,如果假定核苷酸独立,则反向互补寡核苷酸频率的奇偶性可能仅仅是单核苷酸奇偶性规则的结果。先前提出了异常对称性(超出独立核苷酸假设所预期的对称性)作为将第二个奇偶性规则扩展至寡核苷酸的有意义的量度。在长短基因组中检测到全局异常对称性。为了探索沿着基因组序列的异常基因组单词对称性,我们提出了一种滑动窗口方法来提取异常对称性值(针对所有单词或按单词组)。我们将所有人类染色体上的异常对称效应大小分布与对照方案(阳性和阴性对照)进行比较,测试差异并进行残差分析。我们探索了等效构词组中的局部异常对称性,发现局部异常对称性的行为取决于词组。我们得出的结论是,异常对称性是基因组序列中的局部现象,沿每个染色体的序列具有独特的特征。沿着基因组序列的局部异常对称性显示出偏远的区段,并且那些区段具有高的生物学注释密度。

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