GSA是个啥子

Genome-wide association (GWA)

1. GSA应用
2. GSA技术的原理
3. 存在的问题
4. 解决的办法
5. 技术的延伸

## 一、

1.gsa snp list
http://www.glimdna.org/global-screening-array.html

2. probe design
https://www.illumina.com/techniques/microarrays/array-data-analysis-experimental-design/array-probe-design.html

3.
https://www.illumina.com/techniques/popular-applications/genotyping.html

参考资料:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896081/

ACMG检验标准以及InterVar自动化实现

## 一、ACMG遗传变异分类的由来

1. 2000年,ACMG recommendation for standards for interpretation of sequence variations.
2. 2008年,ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
2. 2015年联合分子病理学学会(AMP)和美国病理学家学会发表: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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