Fast and cost-effective whole-genome analysis

KEYWORDS: Custom pipeline development | WGS | Cloud

Challenge

BISC customer was participating in a public bid for a large research project, whereby whole genome sequencing data (50x coverage) would be generated for tens of thousands of samples. In order for them to be successful in this bid, they required to have a bioinformatics analysis pipeline capable of handling such large amounts of data in a high-throughput fashion.

Solution

BISC Global built a pipeline according to the following specifications:

Read alignment, germline SNV/Indel/SV/CN variant calling
Joint genotyping and extensive QC
Pipeline is Hg38-, HLA- and ALT-aware
Broad Institute’s GATK best practices
$5 analysis per genome

Impact

BISC Global built a pipeline which annotates up to 150 50x Whole Genome sequencing samples. With this information the customer was able to enter the public bid, which they won.