Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads
Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads
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DOI：
10.1089/cmb.2011.0201
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发表时间：
2012-03-01
影响因子：
1.7
通讯作者：
Drmanac, Radoje
中科院分区：
文献类型：
--
作者：
Carnevali, Paolo;Baccash, Jonathan;Drmanac, Radoje
在自组装DNA纳米阵列上的无链碱基读取最近已成为一种对人类基因组进行低成本、高质量重测序的有前景的方法。由于这些配对读取的独特特征，现有的用于重测序组装的计算方法，例如那些基于图谱一致性识别的方法，不足以进行准确的变异识别。我们描述了为准确识别单核苷酸多态性（SNP）以及短的替换和插入缺失（indel）而开发的新型计算方法。
Unchained base reads on self-assembling DNA nanoarrays have recently emerged as a promising approach to low-cost, high-quality resequencing of human genomes. Because of unique characteristics of these mated pair reads, existing computational methods for resequencing assembly, such as those based on map-consensus calling, are not adequate for accurate variant calling. We describe novel computational methods developed for accurate calling of SNPs and short substitutions and indels (