Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms
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DOI：
10.1093/bioinformatics/btt314
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发表时间：
2013-08-15
期刊：
影响因子：
5.8
通讯作者：
Tanner, Stephen W.
中科院分区：
文献类型：
--
作者：
Raczy, Come;Petrovski, Roman;Tanner, Stephen W.
已经开发了利用高存储器硬件（> 48 GB）和变体调用器（Isaac Variant Caller）的超快DNA序列比对器（Isaac Genome Alignment Software）。我们证明，我们的组合管道（艾萨克）是四到五倍的速度比BWA+GATK在同等硬件上，具有可比的准确性，三重冲突率和灵敏度。我们进一步表明，艾萨克是有效的致病变种的检测，可以很容易/经济地在商品硬件上运行。
An ultrafast DNA sequence aligner (Isaac Genome Alignment Software) that takes advantage of high-memory hardware (>48GB) and variant caller (Isaac Variant Caller) have been developed. We demonstrate that our combined pipeline (Isaac) is four to five times faster than BWA+GATK on equivalent hardware, with comparable accuracy as measured by trio conflict rates and sensitivity. We further show that Isaac is effective in the detection of disease-causing variants and can easily/economically be run on commodity hardware.