CAJ | 학술논문

随着人类基因组计划的完成,疾病的全基因组关联研究成为可能.该类研究的数据特点是:高维、小样本.面对浩瀚的数据,传统分析方法受到严重挑战.文中介绍全基因组关联研究中的数据分析策略和步骤,包括质量控制、分析、结果表示等,并对全基因组关联研究的局限性和目前统计分析方法的不足进行讨论.
수착인류기인조계화적완성,질병적전기인조관련연구성위가능.해류연구적수거특점시:고유、소양본.면대호한적수거,전통분석방법 수도엄중도전.문중개소전기인조관련연구중적수거분석책략화보취,포괄질량공제、분석、결과 표시등,병대전기인조관련연구적국한성화목전통계분석방법 적불족진행토론.
In lieu of large samples of cases and/or controls with hundreds of markers spreading throughout the human genome, researchers started to notice the dramatic increase of genome-wide association study (GWAS) for complex disorders, in the last 5 years. This paper highlights the statistical challenges in such huge-scale genetic studies, and introduces the analytical strategies and steps for handling GWAS data. Such issues as quality control of data, population stratification, methods available to data analysis and results presentation, replication, as well as the limitations of GWAS studies and the challenges presenting for statistics, are addressed.