טוען...
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...
שמור ב:
| הוצא לאור ב: | BMC Bioinformatics |
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| Main Authors: | , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2021
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| נושאים: | |
| גישה מקוונת: | 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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