Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort
出版年份 2014 全文链接
标题
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 17, Issue 8, Pages 623-629
出版商
Springer Nature
发表日期
2014-10-31
DOI
10.1038/gim.2014.160
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- EXCAVATOR: detecting copy number variants from whole-exome sequencing data
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- Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations
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- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Structural Variation in the Human Genome and its Role in Disease
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