Announcing New Validation Results and SpEC (Spiral Encrypted Compression)
We recently published a press release on our latest validation results for Anchored Assembly and unveiled SpEC. Check out the excerpts from the press release below or you can jump straight to the latest validation and SpEC documentation.
Anchored Assembly showed strong validation results for both sensitivity and specificity in its detection of medium indels and large structural variations. Concordance with GIAB showed Anchored Assembly to be much more effective for the detection of 10-50 base pair indels than BWA/GATK. In other collaborations including that with the Baylor College of Medicine, Anchored Assembly was compared against long read structural variant calls. Baylor’s results demonstrated Spiral Genetics’ technology offered a very low false discovery rate of 3%, the ability to detect more insertions than any other Illumina based methodology tested, and the best overlap with long read detection of any method. The Genome in a Bottle Consortium is working closely with Spiral Genetics and plans to use Anchored Assembly for its upcoming publication on structural variant calls for the NA12878 human genome sample.
Spiral Genetics is pleased to release their high performance BAM alternative, SpEC. This revolutionary file format stores live genomic data with lossless compression and encryption at an estimated half of the size of a BAM and integrates with existing BAM tools on top of Spiral Genetics software suite. SpEC also provides the first large scale solution to joint genome calling for structural variations in addition to SNPs and indels. Finally, by reducing the size of the aligned read files and reducing read time from disk, SpEC can significantly increase the performance of I/O bound bioinformatic pipelines.