This webinar discussed new technologies that are enabling researchers to uncover previously hidden aspects of the genome, including a novel approach to expand the analysis capabilities of next-generation sequencing data and a method for the quantitation of minute sample volumes using microfluidic analysis.

The first technology presentation, from Adrian Fehr of 10x Genomics, addressed a major obstacle of current short-read sequencing technologies, which often miss critical information such as phasing, structural variants, and the ability to map highly repetitive regions. Without this information, only a partial structure of the genome is realized and many mutations and variants are not identified. The 10x Genomics Chromium platform addresses this challenge by preserving relevant information over distances greater than 150 kilobases by linking the short reads to a larger DNA fragment by use of a barcode. The generated libraries are currently compatible with all short-read sequencers, enabling this hidden information to be accessed without the need to invest in a new sequencing infrastructure.

Additional technological advances have propelled a shift in the input concentration requirements for current next-generation sequencing technologies. The trend towards lower input sample concentrations necessitates initial accurate concentration values. In our second presentation, Leah Clissold from the Earlham Institute (formerly the Genomic Analysis Centre) shared results of a new assay for DNA analysis, which enabled accurate sizing/concentration assessment of difficult, precious sample types. The Earlham Institute is focused on the application of state of the art genomics and bioinformatics to advance plant, animal and microbial research to promote a sustainable bioeconomy.