Analysis of whole genome data sets unearths a multitude of variants which need to be filtered and validated to arrive at a causative variant. The current short length sequences, whilst being excellent at identifying single nucleotide variants (SNVs), struggle to correctly map structural variants (SVs).

Current findings also highlight the importance of the non-coding space and the deleterious variants that it may harbour; variants which are harder to validate and associate with particular functions. RNA-sequencing and the integrated analysis of RNA and epigenetic data together with whole genome data, GWAS and eQTLs is essential in elucidating the function of these non-coding variants. Furthermore, most proteins do not act on their own but form part of pathways or networks, necessitating the analysis of genomic data in a pathway or network oriented approach. These are the next challenges in genomics.

A Genomics Workshop was held on between 17 and 20 September 2018 in Cambridge, UK. The three-day workshop tackled the challenges mentioned above through seminars, discussions and hands on training on the following topics:

• Long read sequencing technologies and their advantages in more accurately mapping repetitive regions
• Analysis of whole genome data: calling and validating SVs
• The non-coding space: identification of regulatory elements
• Machine learning and AI to integrate genomic, transcriptomic and epigenomic data
• Protein – protein interactions: Pathways and Networks

Access the workshop programme.