Concepedia

Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes

Desheng Liang, Ying Peng, Weigang Lv, Linbei Deng, Yanghui Zhang, Haoxian Li, Pu Yang, Jianguang Zhang, Zhuo Song, Genming Xu,

Journal of Molecular Diagnostics · 2014 · 172 citations · 20 references

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20

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

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Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

Ronald J. Wapner, Brynn Levy, Blake C. Ballif et al. · New England Journal of Medicine · 2012 · 1.4K citations · Full text

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Chromosome instability is common in human cleavage-stage embryos

Evelyne Vanneste, Thierry Voet, Cédric Le Caignec et al. · Nature Medicine · 2009 · 899 citations

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Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

Yanlin Wang, Yan Chen, Feng Tian et al. · Clinical Chemistry · 2013 · 321 citations · Full text

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