In this blog series, I will discuss the architecture of a state of the art secondary pipeline that is able to detect single nucleotide variations (SNV) and copy number variations (CNV) in one test leveraging next-gen sequencing. In Part I, we reviewed genetic variation in humans in general and looked at the key components of a systems architecture supporting this… Read more »
Today, we are happy to announce a multi-year partnership with Sentieon, a company that develops bioinformatics secondary analysis tools to process genomic data. This partnership will integrate Sentieon’s secondary analysis tools with Golden Helix software to provide users with a comprehensive solution for genomic data analysis. Sentieon’s suite of secondary analysis tools made the significant improvement in runtime over BWA-MEM, GATK,… Read more »
