Breaking New Ground in Transcriptomics: Resolve Full-Length Transcripts for Unprecedented Insights into Novel Isoforms and Disease-Causing Splicing Variants

GATC Biotech, a world-wide leading provider of innovative sequencing and diagnostic solutions, announced the release of a novel service for characterization of full-length transcript isoforms. The new INVIEW TRANSCRIPTOME ISOFORM DISCOVER enables researchers to thoroughly investigate functional diversity of transcriptomes in complex organisms or diseases associated with alternative splicing like cancer. The next-generation sequencing based service effectively eliminates drawbacks associated with conventional methods for isoform analysis. This supports scientists in gaining unique access to important novel genes and isoforms that were impossible to be accurately profiled until today.

“More than 95% of human multi exon genes are alternatively spliced and resulting isoforms make up the major source of proteome diversity,” said Fabian Ripp, Scientist at GATC Biotech. “Despite their origin from the same gene, different isoforms may have significantly different biological effects. Abnormal proportions of specific isoforms or the occurrence of novel isoforms are involved in many human diseases including cancer, Alzheimer or cystic fibrosis. RNA-seq, despite being a powerful technique to study transcriptomes, cannot span full-length transcripts and the reconstruction of complete isoforms is still a challenging task. Based on PacBio’s cutting-edge SMRT®sequencing, GATC’s INVIEW TRANSCRIPTOME ISOFORM DISCOVER generates full-length cDNA sequences from the 5’ end to the poly-A tail, making error prone reconstruction algorithms obsolete.”

INVIEW TRANSCRIPTOME ISOFORM DISCOVER uniquely employs extraordinary long reads to efficiently capture entire exon-intron structures and precisely characterize splicing variants. The service can also be used to analyze features including alternative start sites and alternative polyadenylation events. The product provides phased full-length isoform reads which can be used to determine the allele a cDNA molecule originated from. INVIEW TRANSCRIPTOME ISOFORM DISCOVER can also facilitate transcriptome-wide research by providing the means to discover novel genes, improve gene annotations in reference genomes and acquire more complete gene models.

“By covering whole cDNA molecules of up to 10kb with single sequencing reads, studying isoform profiles of whole transcriptomes is lifted to a new level,” continued Ripp. “Characterizing the full landscape of isoform diversity will certainly provide us new insights in understanding gene regulation during normal physiological function or when pathologies arise.”

INVIEW TRANSCRIPTOME ISOFORM DISCOVER offers sequencing of cDNA molecules up to 10 kb in length based on single molecule observation. The service applies optimized ISO-SEQTM protocols that were originally established by Pacific Biosciences to accurately resolve full-length isoforms without labor-intensive re-construction of transcript contiguity.

The launched product is part of the INVIEW TRANSCRIPTOME product line, which is designed to support various types of RNA research. The sample-to-data Sequencing Solution combines expert library preparation, next-generation sequencing based on proven protocols and detailed BioIT analysis to provide researchers a quick, simple way to isoform discovery.