Comprehensive genome analysis and variant detection at scale using DRAGEN
Technology tamfitronics MainOver the last decade, the advent of genomic sequencing as a common methodology in genomics, genetics and medical applications has enabled multiple discoveries and insights for diseases, population diversity, evolutionary mechanisms and personalized medicine strategies1,2,3,4. This was made possible in large part due to improvements in next-generation sequencing (that is, Illumina) in terms of costs, high data quality and scalability1. Highly accurate methods for the detection of single-nucleotide variations (SNVs) and smaller (<50 bp) insertions or deletions (indels) have been at the forefront of variant detection and interpretation. Despite the amount of attention that SNVs have garnered, they are not the only variant type that differentiates two genomes5,6. Recently, an increasing number of studies...
