Performance evaluation of pipelines for mapping, variant calling and interval padding, for the analysis of NGS germline panels

被引：0
|
作者：
Maria Zanti
Kyriaki Michailidou
Maria A. Loizidou
Christina Machattou
Panagiota Pirpa
Kyproula Christodoulou
George M. Spyrou
Kyriacos Kyriacou
Andreas Hadjisavvas
机构：
[1] The Cyprus Institute of Neurology and Genetics,Department of Electron Microscopy/Molecular Pathology
[2] Cyprus School of Molecular Medicine,Bioinformatics Department
[3] The Cyprus Institute of Neurology and Genetics,Biostatistics Unit
[4] The Cyprus Institute of Neurology and Genetics,Neurogenetics Department
[5] The Cyprus Institute of Neurology and Genetics,undefined
来源：
BMC Bioinformatics | / 22卷
关键词：
Next-generation sequencing (NGS); Germline NGS data analysis; Variant calling; Alignment; Interval padding; Pipeline comparison;
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摘要：
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