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

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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Bibliographic Details
Main Authors: Christodoulou, K. (Author), Hadjisavvas, A. (Author), Kyriacou, K. (Author), Loizidou, M.A (Author), Machattou, C. (Author), Michailidou, K. (Author), Pirpa, P. (Author), Spyrou, G.M (Author), Zanti, M. (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2021
Subjects:
Alignment
biology
Computational Biology
Data handling
Data interpretation
Efficient detection
Enrichment algorithms
germ cell
Germ Cells
Germline NGS data analysis
high throughput sequencing
High-Throughput Nucleotide Sequencing
human
Humans
Information analysis
Interval padding
Management challenges
Mapping
Next-generation sequencing
Next-generation sequencing (NGS)
Personnel testing
Pipeline comparison
Pipelines
Polymorphism, Single Nucleotide
Sequence alignments
Short-read mappings
single nucleotide polymorphism
Single nucleotides
software
Software
Variant calling
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