VAAST+: Tool for variant prioritization, risk assessment and disease-gene finding

描述（由申请人提供）：该提案的总体目标是产生一个单一的可交付成果：VAAST+，它将为个人基因组数据分析中的三个主要瓶颈提供创新和改进的解决方案：变异优先级，风险评估和疾病基因发现。更好的变异优先排序和风险评估将有助于诊断实验室和临床医生寻求解释在常规基因检测过程中发现的罕见变异的影响;而更好的疾病基因发现工具将使研究人员能够寻求采用全基因组和外显子组序列来识别负责罕见和常见疾病的新基因和致病等位基因。VAAST+将利用VAAST平台，该平台是在NHGRI重大机会资助的支持下开发的，标题为“人类全基因组序列变异数据注释和分析工具”。这样做将使我们能够快速实施VAAST+并将其分发给研究社区。

DESCRIPTION (provided by applicant): The overarching goal of this proposal is to produce a single deliverable: VAAST+, which will provide innovative and improved solutions for three major bottlenecks in analyses of personal genomes data: variant prioritization, risk assessment and disease-gene finding. Better variant prioritization and risk assessment will aid diagnostic laboratories and clinicians seeking to interpret the impact of rare variants discovered in the course of routine genetic testing; whereas a better tool for disease-gene finding will empower researchers seeking to employ whole-genome and exome sequences to identify novel genes and disease-causing alleles responsible for rare and common diseases. VAAST+ will leverage the VAAST platform, which was developed with support from an NHGRI Grand Opportunity Grant entitled Tool for annotation and analyses of human whole-genome sequence variation data. Doing so will allow us to rapidly implement VAAST+ and distribute it to the research community.