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Algorithms for genomics and genetics : compression-accelerated search and admixture analysis

机译:基因组学和遗传学的算法:压缩加速搜索和混合分析

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摘要

Rapid advances in next-generation sequencing technologies are revolutionizing genomics, with data sets at the scale of thousands of human genomes fast becoming the norm. These technological leaps promise to enable corresponding advances in biology and medicine, but the deluge of raw data poses substantial mathematical, computational and statistical challenges that must first be overcome. This thesis consists of two research thrusts along these lines. First, we propose an algorithmic framework, "compressive genomics," that accelerates bioinformatic computations through analysis-aware compression. We demonstrate this methodology with proof-of-concept implementations of compression-accelerated search (CaBLAST and CaBLAT). Second, we develop new computational tools for investigating population admixture, a phenomenon of importance in understanding demographic histories of human populations and facilitating association mapping of disease genes. Our recently released ALDER and MixMapper software packages provide fast, sensitive, and robust methods for detecting and analyzing signatures of admixture created by genetic drift and recombination on genome-wide, large-sample scales.
机译:下一代测序技术的飞速发展正在彻底改变基因组学,成千上万个人类基因组规模的数据集迅速成为标准。这些技术上的飞跃有望实现生物学和医学上的相应进步,但是大量原始数据带来了必须首先克服的重大数学,计算和统计难题。本论文包括沿着这些思路的两个研究重点。首先,我们提出一个算法框架“压缩基因组学”,该框架通过分析感知压缩来加速生物信息学计算。我们用压缩加速搜索(CaBLAST和CaBLAT)的概念验证实现论证了这种方法。其次,我们开发了新的计算工具来调查人口混合状况,这是一种在理解人类人口统计历史和促进疾病基因关联映射方面的重要现象。我们最近发布的ALDER和MixMapper软件包提供了快速,灵敏和可靠的方法来检测和分析在全基因组范围内,大样本规模上由遗传漂移和重组产生的混合物特征。

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    Loh Po-Ru;

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  • 年度 2013
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  • 原文格式 PDF
  • 正文语种 eng
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