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Article

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

BMC bioinformatics - 28 Apr 2021

Zanti Maria, Michailidou Kyriaki, Loizidou Maria A, Machattou Christina, Pirpa Panagiota, Christodoulou Kyproula, Spyrou George M, Kyriacou Kyriacos, Hadjisavvas Andreas

Abstract excerpt

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 and avoid false variant calls. Herein, we aimed to compare the performance of twenty-eight combinations of NGS data...

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PMID: 33910496
DOI: 10.1186/s12859-021-04144-1
PMCID: PMC8080428

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