Some surprising twists on the road to discovering the contribution of rare variants to complex diseases.
作者信息
Thomas Duncan C
出版信息
Hum Hered. 2012;74(3-4):113-7. doi: 10.1159/000347020. Epub 2013 Apr 11.
Abstract
摘要
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本文引用的文献
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Rare variants in complex traits: novel identification strategies and the role of de novo mutations.复杂性状中的罕见变异：新型鉴定策略及新生突变的作用。
Hum Hered. 2012;74(3-4):215-25. doi: 10.1159/000346478. Epub 2013 Apr 11.
2
Does accounting for gene-environment interactions help uncover association between rare variants and complex diseases?考虑基因-环境相互作用是否有助于揭示罕见变异与复杂疾病之间的关联？
Hum Hered. 2012;74(3-4):205-14. doi: 10.1159/000346825. Epub 2013 Apr 11.
3
Imputation of rare variants in next-generation association studies.下一代关联研究中罕见变异的插补
Hum Hered. 2012;74(3-4):196-204. doi: 10.1159/000345602. Epub 2013 Apr 11.
4
Incorporating prior biologic information for high-dimensional rare variant association studies.将先验生物学信息纳入高维罕见变异关联研究。
Hum Hered. 2012;74(3-4):184-95. doi: 10.1159/000346021. Epub 2013 Apr 11.
5
Single-variant and multi-variant trend tests for genetic association with next-generation sequencing that are robust to sequencing error.对下一代测序基因关联进行单变量和多变量趋势检验，对测序错误具有稳健性。
Hum Hered. 2012;74(3-4):172-83. doi: 10.1159/000346824. Epub 2013 Apr 11.
6
Rare variant association testing for next-generation sequencing data via hierarchical clustering.通过层次聚类对下一代测序数据进行罕见变异关联测试。
Hum Hered. 2012;74(3-4):165-71. doi: 10.1159/000346022. Epub 2013 Apr 11.
7
Identification of rare variants from exome sequence in a large pedigree with autism.在一个患有自闭症的大型家系中从外显子序列鉴定罕见变异体。
Hum Hered. 2012;74(3-4):153-64. doi: 10.1159/000346560. Epub 2013 Apr 11.
8
Could inbred cases identified in GWAS data succeed in detecting rare recessive variants where affected sib-pairs have failed?在全基因组关联研究（GWAS）数据中识别出的近亲病例，能否成功检测到患病同胞对未能检测到的罕见隐性变异？
Hum Hered. 2012;74(3-4):142-52. doi: 10.1159/000346790. Epub 2013 Apr 11.
9
Using affected sib-pairs to uncover rare disease variants.利用患病同胞对来发现罕见病变体。
Hum Hered. 2012;74(3-4):129-41. doi: 10.1159/000346788. Epub 2013 Apr 11.
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Population genetics of rare variants and complex diseases.罕见变异与复杂疾病的群体遗传学
Hum Hered. 2012;74(3-4):118-28. doi: 10.1159/000346826. Epub 2013 Apr 11.
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