Detecting Low Frequency Variants

描述(由申请人提供)：在一组序列中检测罕见突变的能力使广泛的分子研究成为可能，这些研究将基因和表型的变化与选择压力联系起来。尽管最近的技术已经能够分析整个基因组的常见变异，但在样本中检测罕见的变异仍然是非常具有挑战性的。这项提议旨在开发一种新的方法，利用下一代测序来检测罕见的遗传变异。我们的方法对诊断和治疗试验的发展以及治疗传染病和癌症的新药的开发具有重要意义。 与公共卫生相关：有200多种疾病是由线粒体基因组突变引起的。其中许多突变发生的频率很低，很难被检测到。通过开发一种强大的新方法来检测罕见的变异，我们的目标是解决一个重要的未得到满足的医疗需求。

DESCRIPTION (provided by applicant): The ability to detect rare mutations in a population of sequences is enabling for a wide range of molecular studies that relate shifts in genotype and phenotype to selective pressures. Although recent technologies have enabled the analysis of entire genomes for common variation, it is still very challenging to detect rare variants in a sample. This proposal aims to develop a new approach to detect rare genetic variants using next- generation sequencing. Our approach has implications for the development of diagnostic and theranostic tests, and the development of novel drugs to treat infectious diseases and cancer. PUBLIC HEALTH RELEVANCE: There are over 200 diseases that are caused by mutations in the mitochondrial genome. Many of these mutations occur at a low frequency and are difficult to detect. By developing a powerful new method to detect rare variants, we aim to address an important unmet medical need.