针对家族遗传病高通量测序数据的个性化全基因组分析

A Personalized Genome-Wide Analysis of High-Throughput Sequencing Data for Family Genetic Diseases

遗传病是由于遗传物质的改变或者亲代所遗传的致病基因导致的,通过基因检测可以确诊遗传病.目前对于遗传病的治疗只有后天通过手术或者药物改善,但是这些方式无法从根本上治愈疾病,且可能存在伦理道德的问题.随着生物医疗技术的飞速发展,通过高通量测序(High-throughput sequencing)技术从患者的全基因组中找到致病变异的位置,用基因编辑(Gene Editor)技术修复变异基因从而治愈遗传病已经成为可能.但从庞大的基因组数据中找到遗传病的致病变异是一个繁琐复杂的问题.作者设计了一个针对遗传病样本全基因组数据的分析流程,该流程高效、针对性强、简单易于操作,得到的结果实用性强,将其应用于一例遗传病,迅速找到了这例遗传病的致病突变.该流程具有较强的通用性,可应用于大多数的遗传病诊断分析.

Genetic diseases are caused by changes in genetic material or by the disease-causing genes inherited from parents. Genetic diseases can be diagnosed through genetic testing. At present, the treatment of genetic diseases can only be improved through surgery or drugs, but these methods cannot fundamentally cure the disease, and there may be ethical issues. With the rapid development of bio-medical technology, it is possible to find out the location of pathogenic mutations in the genome-wide of patients through high-throughput sequencing technology, then cure genetic diseases through repair the pathogenic mutations by gene editing. However, it is a complicated problem to find the pathogenic variation of genetic diseases from huge genomic data. In this paper, we designed a genome-wide data analysis process for genetic disease samples, the process is efficient, highly targeted, simple and easy to operate, and the results obtained are highly practical, applied it to a case of genetic disease to find the pathogenic mutation of this case of genetic disease in a moment. This process has strong universality and can be applied to the diagnosis and analysis of most genetic diseases.