基因测序数据与疾病风险评估浅析

Analysis of Gene Sequencing Data and Disease Risk Assessment

美国医学遗传学与基因组学学会(ACMG)制定的《遗传变异分类标准与指南》对准确和规范地进行遗传变异解读具有重要意义,有助于促进基因测序数据分析的标准化和正规化。因此,根据遗传变异分类标准与指南,结合基因与疾病相关数据库,采用生物信息预测软件来分析基因变异的致病风险,有利于疾病的预防、诊断和治疗。

The standards and guidelines for the interpretation of sequence variants developed by the American College of Medical Genetics and Genomics(ACMG)are important for the accurate and standardized interpretation of genetic variation.The study focuses on the ACMG guidelines,combined with genetic and disease-related databases,and biological information prediction software to analyze the risk of genetic variation,which is beneficial to the diagnosis and treatment of genetic diseases.