开发体外高通量剪接测定-猫眼课题宝

开发体外高通量剪接测定

批准号：

8890176

负责人：

William G Fairbrother

金额：

$19.81万

依托单位：

BROWN UNIVERSITY

依托单位国家：

美国

项目类别：

财政年份：

2014

资助国家：

美国

项目状态：

已结题

起止时间：

2014-07-14 至 2017-06-30

来源：

https://reporter.nih.gov/project-details/8890176

关键词：

3&apos Splice Site Address Affect Algorithms Area Binding Sites Biochemical Biological Assay Biology Cells Chemistry Clinical Clinical Research Cloning Complement Coupled DNA Data Defect Development Diagnosis Disease Elements Engineering Event Exons Gene Expression Gene Expression Profiling Genes Genome Genomic DNA Genomic Library Genomics Genotype Goals Health Human In Vitro Incubated Indium Institutes Introns Libraries Link Maps Measurement Methods Modeling Mutation Nuclear Extract Patients Performance Process Protein Isoforms RNA RNA Splicing Recurrence Regulatory Element Research Role Sampling Shotguns Site Spliceosome Assembly Pathway Staging System Techniques Technology Tissues Trans-Activators Transcript Variant clinically relevant deep sequencing design exome exome sequencing flexibility in vivo mRNA Precursor member next generation sequencing public health relevance research study tool

项目摘要

项目成果

William G Fairbrother的其他基金

相似基金

相关文献

中文摘要

翻译

描述（由申请人提供）：前体mRNA剪接是一个关键的和受调控的加工事件，其中内含子被精确地从新生RNA转录物中切除。多达三分之一的遗传性疾病突变导致剪接缺陷。为了更好地理解剪接的机制，我们提出了一个大规模的实施经典的体外剪接测定和组装测定。我们建议使用这种技术来映射3'ss周围的剪接元件，映射3'ss上游的分支点，并将用过的外显子组测序文库重新用作体外剪接底物。这一最终目标是在表征的基因分型样品上进行体外剪接测定，目的是从基因分型工具中提取表型数据。数以百万计的特征化测序文库的存在可能将体外发现与临床相关的患者诊断联系起来。

英文摘要

DESCRIPTION (provided by applicant): Pre-mRNA splicing is a critical and regulated processing event where introns are precisely excised from nascent RNA transcripts. As many as one third of all heritable disease mutations result in splicing defects. To better understand the mechanism of splicing we propose a large-scale implementation of classic in vitro splicing assays and assembly assays. We propose to use this technology to map splicing elements around the 3'ss, to map branchpoints upstream of the 3'ss and also to repurpose spent exome sequencing libraries as in-vitro splicing substrates. This final goal stages an in-vitro splicing assay on characterized, genotyped samples with the aim of extracting phenotypic data from a genotyping tool. The existence of millions of characterized sequencing libraries could potentially connect in-vitro discovery to clinically relevant patient diagnosis.

期刊论文(0)

专著(0)

科研奖励(0)

会议论文