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

利用大规模序列数据准确分析基因组结构变异

• 批准号: 8416344
• 负责人: Steven Andrew McCarroll
• 金额: $ 39.77万
• 依托单位: HARVARD MEDICAL SCHOOL
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-02-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8416344
• 关键词: Adopted; Algorithms; Award; Biomedical Research; Chromosomes; Computer software; DNA Sequence; Data; Disease; Genes; Genome; Genotype; Goals; Individual; Laboratories; Large-Scale Sequencing; Phenotype; Pilot Projects; Population; Reading; Research; Research Support; Scientist; Structure; Technology; Testing; Variant; Work; biological research; disorder risk; genome analysis; genome sequencing; innovation

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.

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），使其成为任何生物医学研究实验室都可以轻松采用的强大、可靠、记录良好、支持良好的研究软件。我们将扩大用户可以部署Genome STRIP的研究场景集，使Genome STRIP可以应用于几乎任何大型测序项目。我们将发展Genome STRIP目前的能力，以利用测序技术的不断进步，并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研究软件，使基因组变异的严格，高质量的分析，并提供适当的数据与疾病的关联进行严格的分析。