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超体素:超高分辨率拷贝数研究的高效畸变检测工具。

Ultrasome: efficient aberration caller for copy number studies of ultra-high resolution.

作者信息

Nilsson Björn, Johansson Mikael, Al-Shahrour Fatima, Carpenter Anne E, Ebert Benjamin L

机构信息

Broad Institute, 7 Cambridge Center, Cambridge, MA 02142, USA.

出版信息

Bioinformatics. 2009 Apr 15;25(8):1078-9. doi: 10.1093/bioinformatics/btp091. Epub 2009 Feb 19.

DOI:10.1093/bioinformatics/btp091
PMID:19228802
Abstract

MOTIVATION

Multimillion-probe microarrays allow detection of gains and losses of chromosomal material at unprecedented resolution. However, the data generated by these arrays are several-fold larger than data from earlier platforms, creating a need for efficient analysis tools that scale robustly with data size.

RESULTS

We developed a new aberration caller, Ultrasome, that delineates genomic changes-of-interest with dramatically improved efficiency. Ultrasome shows near-linear computational complexity and processes latest generation copy number arrays about 10,000 times faster than standard methods with preserved analytic accuracy.

摘要

动机

数百万探针的微阵列能够以前所未有的分辨率检测染色体物质的增减。然而,这些阵列产生的数据比早期平台的数据大几倍,这就需要能够随数据量稳健扩展的高效分析工具。

结果

我们开发了一种新的畸变检测工具Ultrasome,它能以显著提高的效率描绘出感兴趣的基因组变化。Ultrasome显示出近乎线性的计算复杂度,处理最新一代拷贝数阵列的速度比标准方法快约10000倍,同时保持分析准确性。

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