Performance of four modern whole genome amplification methods for copy number variant detection in single cells

被引:40
|
作者
Deleye, Lieselot [1 ]
Tilleman, Laurentijn [1 ]
Vander Plaetsen, Ann-Sophie [1 ]
Cornelis, Senne [1 ]
Deforce, Dieter [1 ]
Van Nieuwerburgh, Filip [1 ]
机构
[1] Univ Ghent, Lab Pharmaceut Biotechnol, Ottergemsesteenweg 460, B-9000 Ghent, Belgium
来源
SCIENTIFIC REPORTS | 2017年 / 7卷
关键词
CIRCULATING TUMOR-CELLS; SOMATIC MUTATIONS; ANEUPLOIDY; DIAGNOSIS; CATALOG; CANCER;
D O I
10.1038/s41598-017-03711-y
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells. Unfortunately, current WGA methods introduce representation bias that limits the detection of small CNVs. New WGA methods have been introduced that might have the potential to reduce this bias. We compared the performance of PicoPLEX DNA-Seq (Picoseq), DOPlify, REPLI-g and Ampli-1 WGA for aneuploidy screening and copy number analysis using shallow whole genome massively parallel sequencing (MPS), starting from single or a limited number of cells. Although the four WGA methods perform differently, they are all suited for this application.
引用
收藏
页数:9
相关论文
共 50 条
  • [21] Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms
    Rao, Junhua
    Peng, Lihua
    Liang, Xinming
    Jiang, Hui
    Geng, Chunyu
    Zhao, Xia
    Liu, Xin
    Fan, Guangyi
    Chen, Fang
    Mu, Feng
    BMC BIOINFORMATICS, 2020, 21 (01)
  • [22] Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms
    Junhua Rao
    Lihua Peng
    Xinming Liang
    Hui Jiang
    Chunyu Geng
    Xia Zhao
    Xin Liu
    Guangyi Fan
    Fang Chen
    Feng Mu
    BMC Bioinformatics, 21
  • [23] Exome sequencing and whole genome sequencing for the detection of copy number variation
    Hehir-Kwa, Jayne Y.
    Pfundt, Rolph
    Veltman, Joris A.
    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS, 2015, 15 (08) : 1023 - 1032
  • [24] Genome-wide copy number analysis of single cells
    Timour Baslan
    Jude Kendall
    Linda Rodgers
    Hilary Cox
    Mike Riggs
    Asya Stepansky
    Jennifer Troge
    Kandasamy Ravi
    Diane Esposito
    B Lakshmi
    Michael Wigler
    Nicholas Navin
    James Hicks
    Nature Protocols, 2012, 7 : 1024 - 1041
  • [25] Genome-wide copy number analysis of single cells
    Baslan, Timour
    Kendall, Jude
    Rodgers, Linda
    Cox, Hilary
    Riggs, Mike
    Stepansky, Asya
    Troge, Jennifer
    Ravi, Kandasamy
    Esposito, Diane
    Lakshmi, B.
    Wigler, Michael
    Navin, Nicholas
    Hicks, James
    NATURE PROTOCOLS, 2012, 7 (06) : 1024 - 1041
  • [26] Evaluation of whole-genome amplification using multipledisplacement amplification of a limited number of cells
    Bashiardes, Stavros
    Salame, Nicole
    Patsalis, Philippos C.
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2006, 44 (09) : 1158 - 1160
  • [27] Clinical Validation of Whole-Genome Sequencing for the Detection of Copy Number Variation
    Thayanithy, V.
    Thyagarajan, B.
    Bower, M.
    Munro, S.
    Lam, H.
    Bray, S.
    Vivek, S.
    Schomaker, M.
    Daniel, J.
    Henzler, C.
    Nelson, A.
    Yohe, S.
    McIntyre, K.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2022, 24 (10): : S27 - S27
  • [28] Effective normalization for copy number variation detection from whole genome sequencing
    Janevski, Angel
    Varadan, Vinay
    Kamalakaran, Sitharthan
    Banerjee, Nilanjana
    Dimitrova, Nevenka
    BMC GENOMICS, 2012, 13
  • [29] Evaluation of copy number alternations detection tools for whole genome sequence data
    Ono, Hanako
    Gotoh, Masahiro
    Kohno, Takashi
    Shiraishi, Kouya
    CANCER SCIENCE, 2024, 115 : 1094 - 1094
  • [30] Effective normalization for copy number variation detection from whole genome sequencing
    Angel Janevski
    Vinay Varadan
    Sitharthan Kamalakaran
    Nilanjana Banerjee
    Nevenka Dimitrova
    BMC Genomics, 13