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Bioinformatics Workflows for Genomic Variant Discovery, Interpretation and Prioritization
Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations [Working Title]
Next-generation sequencing (NGS) techniques allow high-throughput detection of a vast amount of variations in a cost-efficient manner. However, there still are inconsistencies and debates about how to process and analyse this 'big data'. To accurately extract clinically relevant information from genomics data, choosing appropriate tools, knowing how to best utilize them and interpreting the results correctly is crucial. This chapter reviews state-of-the-art bioinformatics approaches indoi:10.5772/intechopen.85524 fatcat:yaasb4tk3rgebhmmu26qkd5d4u