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Precise Length and 5-Methylcytosine Assessments of Repeat Sequences

重复序列的精确长度和 5-甲基胞嘧啶评估

基本信息

批准号：
10254007
负责人：
Anna Schibel
金额：
$ 27.19万
依托单位：
ELECTRONIC BIOSCIENCES, INC.
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-05-10 至 2023-04-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10254007
关键词：
Achievement Amyotrophic Lateral Sclerosis Automation Back Biological Biological Assay Biological Sciences Biopsy Biotin Buffers Capillary Electrophoresis Cells Clinical Code Consensus Sequence Consumption DNA DNA Repeat Expansion DNA Restriction Enzymes DNA Sequence Development Diagnostic Disease Epigenetic Process Foundations Fragile X Syndrome Friedreich Ataxia G-Quartets GTP-Binding Protein alpha Subunits, Gs Genetic Genetic Diseases Genome Genomic Segment Genomics Genotype Goals Gold Guanine Hemolysin Human Huntington Disease Immobilization Length Libraries Methodology Methods Methylation Microsatellite Repeats Minisatellite Repeats Motor Mutation Myotonic Dystrophy Nucleotides Patients Pattern Phase Polymerase Population Preparation Process Reader Reading Resolution Role Sampling Satellite DNA Severities Small Business Innovation Research Grant Spinocerebellar Ataxias Streptavidin Structure System Tandem Repeat Sequences Technology Third Generation Sequencing Time base disease diagnosis ds-DNA genome sequencing illness length improved insertion/deletion mutation nanopore next generation sequencing patient population personalized care point-of-care diagnostics population health prognostic prognostic assays prognostic value programs screening panel single molecule synthetic construct whole genome

项目摘要

Project Summary During this program, Electronic BioSciences, Inc. (EBS) will develop and demonstrate a complete, end-to-end, universal methodology for repeat sequence characterization, including precise length and methylation (5- methylcytosine or 5mC) assessments. This technology will be enabled by the development and demonstration of a sequence-targeted sample and library preparation that will enable the isolation and enrichment of any repeat sequence with a known sequential context or loci for disease-specific diagnostics. Specifically, satellite DNA is comprised of sequence repeats that occur in tandem 5 or more times. Among this DNA, microsatellites have a 1–10 nucleotide (nt) repeat pattern and minisatellites have a >10-nt long repeat pattern. A specific type of satellite DNA found in coding regions of the genome are repeat expansions. Increases in repeat sequence length and epigenetic 5mC status have been correlated to a number of diseases, including Myotonic Dystrophy, Huntington’s Disease, Friedreich’s Ataxia, Fragile X, Fragile XE, Amyotrophic Lateral Sclerosis or ALS, etc., and the targeted characterization of these regions would represent a direct approach (relative to whole genome sequencing) towards clinical and point-of-care diagnostics. However, there is no technology presently available that is ideally suited for characterizing these repeat sequences as a result of read length (associated with next generation sequencing approaches) or accuracy (associated with third generation sequencing approaches), which has significantly limited the understanding of the role repeat sequences have in disease states, their diagnostic/prognostic utility, and the development of associated assays. During this Phase I SBIR program, EBS will develop and demonstrate a technology that will allow these regions to be efficiently assessed for disease state diagnostics.

项目总结