Developing Stats Methods to Detect Rare Genetics Variants in Human Pedigrees

开发统计方法来检测人类谱系中的罕见遗传变异

• 批准号: 8745754
• 负责人: Yin Yao
• 金额: $ 34.76万
• 依托单位: NATIONAL INSTITUTE OF MENTAL HEALTH
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8745754
• 关键词: Accounting; Affect; Algorithms; Amish; Base Sequence; Code; Communities; Complex; Coupled; DNA; Data; Data Set; Dependency; Development; Disease; Disease model; Family; Future; Genes; Genetic; Genomics; Haplotypes; Human; Human Genetics; Individual; Intramural Research Program; Literature; Machine Learning; Mental disorders; Methods; Modeling; Mutation; Nasopharynx Carcinoma; Obsessive-Compulsive Disorder; Phenotype; Population; Property; Publications; Relative (related person); Research Design; Role; Schizophrenia; Scientist; Sequence Analysis; Statistical Methods; Sum; Technology; Testing; Variant; Weight; Work; analytical method; base; database of Genotypes and Phenotypes; design; exome sequencing; family structure; genetic linkage analysis; genetic pedigree; genetic variant; genome sequencing; genome wide association study; human disease; interest; large scale simulation; next generation sequencing; novel; population based; statistics; trait

We have developed pedigree-based rare variants analysis approach by treating each affected relatives as dependent pairs and the dependency will be accounted for using correlation matrix. This work led to two publications. We are now working on using a haplotype-based approach to identify causal variants for human diseases such as schizophrenia, bipolar and obsessive compulsive disorder. We have obtained the relevant data sets from dbGap which will allow us to compare the statistical properties (in an empirical sense) given by various types of analytical methods. In the future, we will also make contribution to a bipolar study in the Plain People in the Amish community, led by Dr. Francis McMahon (Chief, Human Genetics Branch, Intramural Research Program).

我们开发了基于家系的罕见变异分析方法，将每个受影响的亲属视为依赖对，并使用相关矩阵来解释依赖关系。这项工作导致了两个出版物。我们现在正致力于使用基于单体型的方法来识别人类疾病的因果变异，如精神分裂症，躁郁症和强迫症。我们已经从dbGap获得了相关的数据集，这将使我们能够比较各种类型的分析方法给出的统计特性（在经验意义上）。 在未来，我们还将作出贡献，在平原人在阿米什社区的双极研究，由博士领导弗朗西斯麦克马洪（首席，人类遗传学分支，校内研究计划）。