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

VAAST：用于变异优先级排序、风险评估和疾病基因发现的工具

基本信息

批准号：
9551714
负责人：
Lynn Jorde
金额：
$ 11.75万
依托单位：
UNIVERSITY OF UTAH
依托单位国家：
美国
项目类别：
财政年份：
2013
资助国家：
美国
起止时间：
2013-09-01 至 2018-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9551714
关键词：
Algorithms Alleles Amino Acids Autistic Disorder BRCA1 gene Base Sequence Benchmarking Case-Control Studies Classification Clinical Collaborations Collection Communities Computer software Data Data Set Databases Development Diagnostic Disease Disease model Genes Genetic Genetic Research Genetic screening method Genome Genomics Genotype Goals Grant Health Healthcare Heterogeneity Homologous Protein Human Human Genome Individual Intercistronic Region Introns Laboratories Methodology Methods Mining Modeling National Human Genome Research Institute Nucleic Acid Regulatory Sequences One-Step dentin bonding system Online Mendelian Inheritance In Man Ontology Organism Pathway interactions Patient risk Patients Penetrance Protein Region Proteins Research Research Personnel Risk Risk Assessment Severities Testing Untranslated Regions Variant annotation system base clinical application clinical diagnostics disorder risk exome exome sequencing flexibility genetic pedigree genome analysis genome sequencing genome-wide genotyped patients improved innovation insertion/deletion mutation malignant breast neoplasm novel novel strategies outcome forecast phenotypic data population stratification public health relevance rare variant repository response risk variant sequencing platform tool whole genome

项目摘要

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.

描述（由申请人提供）：该提案的总体目标是产生一个可交付成果：VAAST+，它将为个人基因组数据分析的三个主要瓶颈提供创新和改进的解决方案：变异优先级排序、风险评估和疾病基因发现。更好的变异优先级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利用全基因组和外显子组序列来识别导致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 大机会资助的支持下开发的，该资助名为“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。