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

BACKGROUND: Next-generation sequencing (NGS) represents a significant advancement in clinical genetics. However, its use creates several technical, data interpretation and management challenges. It is essential to follow a consistent data analysis pipeline to achieve the highest possible accuracy an...

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Veröffentlicht in:BMC Bioinformatics
Hauptverfasser: Zanti, Maria, Michailidou, Kyriaki, Loizidou, Maria A., Machattou, Christina, Pirpa, Panagiota, Christodoulou, Kyproula, Spyrou, George M., Kyriacou, Kyriacos, Hadjisavvas, Andreas
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2021
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Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8080428/
https://ncbi.nlm.nih.gov/pubmed/33910496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-021-04144-1
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