SAN FRANCISCO (PRWEB) November 16, 2021
Blackhawk Genomics LLC, a molecular diagnostics technology company, today announced the launch of the HerediSeq and PanSeq genomic analysis kits designed to detect structural variants and elucidate difficult-to-characterize genomic regions using long-read sequencing. HerediSeq chemistry resolves deletions and duplications, repetitive regions and pseudogenes, allowing for easy and accurate identification of germline structural variants in genes associated with the increased risk of hereditary cancer and cardiac diseases as well as those relevant in carrier screening applications. PanSeq uses targeted enrichment for rapid detection of a wide range of microbial, fungal, and viral species as well as identifying the most common antibiotic resistance markers.
The HerediSeq assays use CRISPR/Cas9 technology to enrich specific genomic regions prior to sequencing, without the need for amplification. Each assay covers clinically important structural variants, and can be easily run in parallel with commercially available short-read next-generation sequencing platforms. Together, the long and short reads allow for high resolution identification of single nucleotide variants, deletions and duplications, and structural differences all in one simple reaction mix. Currently, three HerediSeq kits are available, targeting the following genes:
- Cancer: BRCA1, BRCA2, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, and STK11
- Cardiac Disease: COL3A1, DMD, F9, KCNH2, KCNQ1, MYH11, TGFBR1, and TGFBR2
- Carrier Screening: DMD, FMR1, HBA1 and HBA2, and SMN1 and SMN2
HerediSeq provides a streamlined workflow, allowing up to 24 samples to be sequenced in a single flow cell or run. Sample preparation takes less than a day, enabling researchers to go from sample to final analysis in less than three days. The technology eliminates the need for the forced alignments and development of bioinformatic models commonly required when analyzing short read sequencing data in difficult regions. Each kit can process 96 samples and data can be easily merged with Illumina or Thermo short-read sequencing for comprehensive genomic analysis.
“We are excited to see adoption by a number of clinical laboratories in the United States. Addition of these assays to their existing NGS panels has allowed laboratories to offer much more accurate and comprehensive clinical testing previously out of reach. It has improved turnaround time and reduced personnel, consumables and analysis costs for commonly screened conditions including Spinal Muscular Atrophy, Fragile-X and muscular dystrophy, among others. The assays lend themselves well to scalability that aligns well with short-read sequencing operations of all sizes and precludes the need for validating and maintaining capillary electrophoresis,” said Tootie Tatum, CEO of Blackhawk Genomics.
The PanSeq assay uses targeted amplification of a variety of bacterial, fungal, and viral pathogens as well as the most common antibiotic resistance genes, without the need for complex PCR panels. Unlike qPCR-based assays, the PanSeq long-read sequencing and amplified probe technologies capture more data from informative regions of the genome outside of short amplicons. This yields better resolution, leading to more accurate pathogen identification. Up to 96 samples can be processed in a single run with data available in less than a day from sample receipt. Each kit can process 96 samples.
All kits are available for purchase at http://www.herediseq.com
About Blackhawk Genomics
Blackhawk Genomics is a molecular technology firm specializing in molecular diagnostics and clinical laboratory set-up and management. With broad expertise in genetics, molecular microbiology, cancer genomics, and clinical data pipeline implementation and analysis. Blackhawk Genomics provides practical, end-to-end experience and guidance for a full range of next-generation sequencing technologies. For more information, visit http://www.blackhawkgenomics.com/