Novogene’s 2021 NGS Forum took place over two days on the 20th and 21st of October, with a star-studded pan-European panel and a marvellously engaged audience. The forum brought together some of Europe’s leading thinkers in the applications of next generation sequencing from across areas such as ash tree genomics and chicken plumage iridescence, to gut microbiome studies and potential cancer treatments. Day 1 was focused on plant and animal research and day 2 had a human research focus.

Dr Sonya Clegg from Oxford University kicked off proceedings with her presentation on the dynamics of hybridisation between two bird species of the Zosteropidae family on Norfolk Island off the coast of New Zealand. The endemic Z. tenuirostris and the colonist Z. lateralis are species separated by over 2 million years of divergence, but on Norfolk Island, there is now evidence of introgression between the two species. Facilitated by pair-end 150bp reads performed by Novogene on the Illumina Novaseq 6000 platform, Dr Clegg and her team uncovered dynamics that are typical of a population with a large demographic imbalance, in this case large numbers of the endemic species and an initially rare coloniser. Their model supports continued introgression in the direction of endemic to coloniser, despite the coloniser now being the more common of the two. Their future work will focus on whole genome sequencing to determine the factors involved in mate selection and whether or not there is an evolutionary advantage in the traits selected for that have led to the island endemic becoming a near-threatened species.

After a well-deserved coffee and pastry break, Professor Richard Buggs joined us for an update on his work in which personalised genomics have been applied to ash trees in an effort to understand the mechanisms of resistance that some individuals display towards ash dieback, a fungal disease that has killed tens of millions of ash trees in the UK since 2012. Professor Buggs outlined how his team developed a model for the prediction of ash tree health with help from Novogene through whole genome sequencing of pooled samples from healthy and unhealthy trees. This allowed them to understand the genetic differences between resistant and susceptible trees can be applied to selective breeding programmes to produce populations of trees with full resistance to dieback.

Day 1 of the forum was wrapped up by Professor Dominic Wright and his talk about the genomics of feralization and regulation of iridescent structural colour variation in chickens. Some comic relief was provided in the form of a video of Professor Wright running after chickens on a Hawaiian island in his flip flops, in an attempt to catch them using a net gun. Feralization of a species occurs when a population selected for domestic purposes is returned to the wild. Changes in environment lead to increased natural and sexual selection, resulting in changes to traits from behaviour to morphology. Professor Wright spoke to us about his group’s recent results for genes involved in plumage iridescence variation and touched on some other traits related to feralization. These results were elucidated from sequencing data provided by Novogene by using our GWAS and RNA sequencing services.

We started back again for day 2 with Dr Matthias Wirth of Charité Universitat Berlin who spoke to us about his research on pancreatic cancer. We were given a lesson on the basics of cellular apoptosis and the ways in which cancer treatment resistance most commonly occurs due to the ability of cancer cells to evade drug-induced apoptosis. Dr Wirth then went on to tell us about NOXA, a pro-apoptotic member of the BCL-2 family that is associated with pancreatic ductal adenocarcinoma (PDAC). Its activity is inhibited in these cancer cells due to high expression levels of its repressor molecule, RUNX1. After performing a drug-screening and finding a drug that inhibits the action of RUNX1, Dr Wirth’s team carried out a series of gain and loss of function experiments. This approach, combined with genome wide analysis and ChIP sequencing carried out by Novogene, highlighted that methylation at the NOXA promoter was upregulated with the loss of RUNX1 function, leading to higher pro-apoptotic activity of NOXA and the reduction of tumour growth. This research highlights a potential novel treatment for PDAC, which is currently a therapy-resistant cancer.

After the coffee break, we were treated to a really engaging presentation from Professor Alexandra Zhernakova of the University Medical Centre, Groningen. She spoke to us about her work on the Dutch Microbiome Project, which is investigating the gut microbiome and its interplay with environment and health. This project includes samples from 10,000 individuals and, facilitated by Novogene’s metagenomic services, has identified a shared profile of gut bacteria across multiple diseases and determined the key features of healthy and unhealthy microbiomes. It has also uncovered a link between certain gut species and metabolic pathways with various factors such as environment, diet quality score, the presence of pets, and air quality. Professor Zhernakova and her colleagues have also shown that the gut microbiome variations can be linked to changes in BMI or drug use, while a substantial proportion of the microbiome remains stable over time and can be used as an individual’s bacterial fingerprint.

To wrap up day 2, we had Dr Yihua Wang from the University of Southampton talk to us about his research on Idiopathic Pulmonary Fibrosis, a lung disease with a median survival of three years and limited treatment options. It is known in this disease that myofibroblasts deposit extracellular matrix (ECM) resulting in a fibrotic environment. However, the source of these myofibroblasts has been debated for many years. It was initially proposed that polarised epithelial cells that had undergone epithelial-mesenchymal transition (EMT) were to blame, but more recently the contribution of alveolar epithelial type II (ATII) cells that have undergone EMT has been considered as the primary source of these myofibroblasts. This was suggested from lineage tracing in transgenic mice, and Dr Wang took us through the process of his research that has since built upon this hypothesis, with a helping hand from Novogene’s RNA sequencing services.

All talks finished with a Q&A session with some really great questions from the audience, questions that attested to the quality of the speakers and their presentations. There was some excellent and though-provoking discussion and, we felt, a massive benefit for all who attended, speakers and audience alike. If you missed the forum, all talks are available to watch on-demand on our dedicated forum page here:https://om.novogene.com/novogene-ngs-forum-2021-landingpage。

We would like to extend a further thank you to our 6 speakers for agreeing to join us, and also to everyone who attended across both days of the forum. We certainly hope to run it again in 2022 and who knows, maybe we’ll get the chance to organise it as a face-to-face gathering!