ArticleJournal of human genetics2018
Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and β-thalassemia genotyping.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- A systematic study of WGA strategies for enhanced STR and SNP genotyping on trace DNA.International journal of legal medicine · 2026Article
- A Strategy Potentially Suitable for Combined Preimplantation Genetic Testing of Aneuploidy and Monogenic Disease That Permits Direct Detection of Pathogenic Variants Including Repeat Expansions and Gene Deletions.International journal of molecular sciences · 2025Article
- ViLR: a novel virtual long read method for breakpoint identification and direct SNP haplotyping in de novo PGT-SR carriers without a proband.Reproductive biology and endocrinology : RB&E · 2025Article
- Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing.BMC medical genomics · 2024Article
- A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation.BMC genomics · 2023Article
- Appropriate whole genome amplification and pathogenic loci detection can improve the accuracy of preimplantation genetic diagnosis for deletional α-thalassemia.Frontiers in endocrinology · 2023Article
- Recombinase Polymerase Amplification-Based Biosensors for Rapid Zoonoses Screening.International journal of nanomedicine · 2023Review
- Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in theFrontiers in pediatrics · 2023Article
- Recent advances and application of whole genome amplification in molecular diagnosis and medicine.MedComm · 2022Review
- Excluding embryos with two novel mutations inAging · 2021Article
- Longitudinal clonal tracking in humanized mice reveals sustained polyclonal repopulation of gene-modified human-HSPC despite vector integration bias.Stem cell research & therapy · 2021Article
- Single-cell sequencing of the small and AT-skewed genome of malaria parasites.Genome medicine · 2021Article
- A Non-invasive Chromosome Screening Strategy for PrioritizingFrontiers in cell and developmental biology · 2021Article
- The application of single-cell sequencing technology in the diagnosis and treatment of hepatocellular carcinoma.Annals of translational medicine · 2019Review
- Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach.International journal of hematology · 2019Article
- Article
- [Rapid preimplantation genetic diagnosis ofNan fang yi ke da xue xue bao = Journal of Southern Medical University · 2018Article
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 carried out MALBAC and MDA on single-cell and five-cell samples. We detected and statistically analyzed differences in the amplification efficiency, positive predictive value, sensitivity, allele dropout (ADO) rate, SNPs, and CV values between the two methods. Through Sanger sequencing at the single-cell and five-cell levels, we showed that both the amplification rate and ADO rate of MDA were better than those using MALBAC, and the sensitivity and positive predictive value obtained from MDA were higher than those from MALBAC for β-thalassemia genotyping. Using next-generation sequencing (NGS) at the single-cell level, we confirmed that MDA has better properties than MALBAC for SNP detection. However, MALBAC was more stable and homogeneous than MDA using low-depth NGS at the single-cell level for CNV detection. We conclude that MALBAC is the better option for CNV detection, while MDA is better suited for SNV detection.
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