SureSeq: Variant calling best practices

In this application note, Oxford Gene Technology discusses the best practices for variant calling. Variant calling is the computational process by which a laboratory identifies variants in sequencing data. As one of the first steps in many NGS data analysis pipelines, accurate variant calling is often critical to downstream analysis and interpretation. In turn, variant calling underpins many genomic applications, from helping to drive our understanding of genomics to facilitating research into hereditary diseases and cancer genomics, paving the way to the future of precision medicine. While differentiating between ‘true variants’ and ‘noise’ in sequencing data has presented an ongoing challenge in clinical research, advances in bioinformatics have fuelled increasingly accurate variant calling strategies.