At the recent 2020 AGBT meeting Universal Sequencing gave a data-filled poster on their new Transposase Enzyme Linked Long-read Sequencing kit and workflow, known as TELL-Seq™. The technology features a unique combination of bead-linked and soluble transposases that can generate linked-read libraries in 3 hours from as little as 0.1ng of genomic DNA input. Their kits offer all of the advantages of linked-read sequencing without the need for microfluidic instrumentation. The scientific poster can be viewed here.
One of the featured projects was a collaboration with Sage Science combining Sage’s HLS-CATCH targeted long-fragment sample prep with TELL-seq. Sage prepared a 200kb genomic DNA target from the BRCA1 locus (from an anonymous blood donor) on its SageHLS platform and sent the product to Universal Sequencing labs for TELL-seq sequencing. The data clearly revealed both haplotypes over the entire 200kb target region. In addition, de novo assembly of the BRCA1 reads revealed a small 1.5kb heterozygous deletion in the 5’ regulatory region of the gene.
The data demonstrated that the combination of TELL-seq and HLS-CATCH will be a powerful, high-resolution, and cost-effective option for long-range genome phasing and targeted de novo sequencing and assembly.
An example of a phased assembly from the HLS-CATCH/TELL-Seq workflow (Tom Chen, et al. presented at AGBT 2020)
