Personalized copy number and segmental duplication maps using next-generation sequencing

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Items 301–400 of 748

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    Vikas Bansal, Cornelia Dorn, Marcel Grunert, Sabine Klaassen, Roland Hetzer, Felix F. Berger, Silke Sperling · 2014 · PLoS ONE
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    Long Huang, Xiao-Liu Jiang, Hongbin Liang, Jiancheng Li, Li‐Han Chin, Jianping Wei, Ruiru Wang, Jing Cai, Qiang Xiong, Lien-Tu Wang et al. · 2020 · Molecular Medicine
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    Xiaoqing Peng, Jianxin Wang, Zhen Zhang, Qianghua Xiao, Min Li, Yi Feng Pan · 2015 · BMC Bioinformatics
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    Roger Piqué-Regi, Antonio Ortega, Ahmed H. Tewfik, Shahab Asgharzadeh · 2011 · IEEE Signal Processing Magazine
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    Benjamín Rodríguez‐Santiago, Lluı́s Armengol · 2012 · Diagnóstico Prenatal
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     David Castells‐Rufas, Santiago Marco‐Sola, Juan Carlos Moure, Quim Aguado-Puig, Antonio Espinosa · 2022 · IEEE Access