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Article

Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and β-thalassemia genotyping.

Journal of human genetics - 1 Apr 2018

He Fei, Zhou Wanjun, Cai Ren, Yan Tizhen, Xu Xiangmin

Abstract excerpt

In this study, we aimed to assess the performance of two whole-genome amplification methods, multiple displacement amplification (MDA), and multiple annealing and looping-based amplification cycle (MALBAC), for β-thalassemia genotyping and single-nucleotide polymorphism (SNP)/copy-number variant (CNV) detection using two DNA sequencing assays. We collected peripheral blood, cell lines, and discarded embryos, and...

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PMID: 29440707
DOI: 10.1038/s10038-018-0411-5

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