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首页> 美国卫生研究院文献>Acta Naturae >Individual Genome of the Russian Male: SNP Calling and a de novo Assembly of Unmapped Reads
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Individual Genome of the Russian Male: SNP Calling and a de novo Assembly of Unmapped Reads

机译：俄罗斯男性的单个基因组：SNP调用和未映射读物的从头大会

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摘要

A somatic cell genome was recently resequenced for a patient with renal cancer. The data were submitted to the NCBI Sequence Read Archive under the accession number SRA012240. Here, we have performed SNP calling for the genome and compared it with several published genomes. We have found 2, 921, 724 SNPs, including 1, 472, 679 newly described ones. Among them, 63, 462 SNPs have been mapped to the Y chromosome and, based on 18 markers, the genome has been ascribed to the R1a1a haplogroup predominant in Russian males. The mitochondrial haplogroup has been determined as U5a, which is also common in the European part of Russia. Short reads unmapped to the human genome were used for thede novoassembly of DNA sequences. This resulted in genome-specific contigs (more than 100 bp in length) with an overall length of 154 kbp (for GAII) and 4.7 kbp (for SOLiD).
机译：最近对肾癌患者的体细胞基因组进行了重新测序。数据以登录号SRA012240提交给NCBI序列读取档案。在这里，我们进行了要求基因组的SNP并将其与几个已公开的基因组进行比较。我们发现了2,921,724个SNP，其中包括1,472,679个新描述的SNP。其中，已将63、462个SNP定位到Y染色体，并基于18个标记，将该基因组归因于俄罗斯男性中最主要的R1a1a单倍群。线粒体单倍体已确定为U5a，在俄罗斯的欧洲部分也很常见。未映射到人类基因组的短读用于DNA序列的从头组装。这产生了基因组特异性重叠群（长度超过100 bp），全长为154 kbp（对于GAII）和4.7 kbp（对于SOLiD）。

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