Recommendations for Bioinformatics in Clinical Practice

Abstract excerpt

Next Generation Sequencing (NGS) is increasingly used in clinical diagnostics, largely driven by the success and robustness of Whole Genome Sequencing (WGS). Whereas updated guidelines exist for how to interpret and report on variants that are identified from NGS using bioinformatics pipelines, there is a need for standardised bioinformatics practices for diagnostics to ensure clinical consensus, accuracy, reprodu...

Topics

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• Exome
• Genetic Variation
• Genome, Human
• Genomics and Rare Diseases
• High-Throughput Nucleotide Sequencing
• Polymorphism, Single Nucleotide
• Rare Diseases
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

facc0610-68f9-5172-9f98-ef0c616622b7

DOI

10.1101/2024.11.23.624993