Accurate analysis of genome structural variation using large-scale sequence data

描述（由申请人提供）：该项目的目标是使每个生物和生物医学研究实验室能够使用高通量DNA序列数据轻松准确地分析基因组结构变异。我们将进一步开发现有的分析软件。Genome STRIP（种群基因组结构），使其成为健壮、可靠、文档完备、支持良好的研究软件，任何生物医学研究实验室都可以轻易采用。我们将扩大用户可以部署Genome STRIP的研究场景集，使Genome STRIP几乎可以应用于任何大规模测序项目。我们将改进Genome STRIP目前的能力，以利用测序技术的不断进步，更全面地分析每种形式的基因组结构变异。我们的目标是分发和支持能够对基因组变异进行严格、高质量分析的研究软件，并为与疾病相关的严格分析提供适当的数据。

DESCRIPTION (provided by applicant): The goal of this project is to enable every biological and biomedical research laboratory to readily and accurately analyze genome structural variation using high-throughput DNA sequence data. We will further develop our existing analysis software. Genome STRIP (Genome STRucture in Populations), to make it into robust, reliable, well-documented, well-supported research software that any biomedical research laboratory can readily adopt. We will enlarge the set of research scenarios in which users can deploy Genome STRIP, so that Genome STRIP can be applied to almost any large-scale sequencing project. We will evolve Genome STRIP'S current capabilities to take advantage of ongoing advances in sequencing technology and to more completely analyze each form of genome structural variation. We aim to distribute and support research software that enables rigorous, high-quality analysis of genome variation and provides the appropriate data for rigorous analysis of association with disease.