Providing tools and resources designed to help improve analysis of complex sequence data.
Bioinformatics – the tool for analyzing complex biological data using sophisticated algorithms – is essential for understanding the vast amount of data that can be garnered from technologies such as next generation sequencing (NGS). The advancements in NGS have facilitated deeper sequencing and higher coverage of the genome and yield superior quality data that could have only been imagined before. Therefore, it is imperative to develop powerful informatics software and algorithms that can push the boundaries of genomic science to interpret this data to precisely call mutations, such as single nucleotide variants (SNVs), insertions/deletions (indels) and structural variants (SVs), and to be able to utilize this knowledge toward development of precise treatment plans for personalized medicine in the future. Roche Sequencing Solutions has authored multiple algorithms, such as MetaSV and SomaticSeq, that improve the accuracy of calling variants, and developed resources, such as VarSim and LongISLND, to facilitate the benchmarking of emerging algorithms.