Genomic differences range from single nucleotide differences to complex structural variations. Current methods typically annotate sequence differences ranging from SNPs to large indels accurately but do not unravel the full complexity of structural rearrangements, including inversions, translocations, and duplications, where highly similar sequence changes in location, orientation, or copy number. Here, we present SyRI, a pairwise whole-genome comparison tool for chromosome-level assemblies. SyRI starts by finding rearranged regions and then searches for differences in the sequences, which are distinguished for residing in syntenic or rearranged regions. This distinction is important as rearranged regions are inherited differently compared to syntenic regions.

中文翻译：

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SyRI：从全基因组组装中寻找基因组重排和局部序列差异

基因组差异的范围从单核苷酸差异到复杂的结构变异。当前的方法通常准确地注释从 SNP 到大插入缺失的序列差异，但不能解开结构重排的全部复杂性，包括倒位、易位和重复，其中高度相似的序列在位置、方向或拷贝数方面发生变化。在这里，我们介绍了 SyRI，这是一种用于染色体水平组装的成对全基因组比较工具。SyRI 首先查找重排区域，然后搜索序列中的差异，这些差异因位于同线或重排区域而异。这种区别很重要，因为与同线区域相比，重排区域的遗传方式不同。