We ran all 3364 posters presented at ASHG 2019 through our Natural Language Processing (NLP) engine to gain insights into this year’s research trends. Here we’re sharing some of our findings on the genes and diseases in the research.
The usual suspects hit the top of the most researched genes list, BRCA1, BRCA2, TP53 and CFTR. But, the most interesting finding in our analysis of the genes represented in the posters is that 85% of genes were only mentioned in a single abstract, with an additional 12% mentioned in only 2 abstracts.
These findings demonstrate the broad range of research presented at ASHG and the rapid discovery phase we’re still experiencing in the world of genomics. We’re hopeful that this research will pave the way for new gene-disease connections and therapeutic targets, improving the lives of more patients.
Here are the genes that appeared in more than 2 posters:
Interestingly, congenital heart disease and cardiomyopathies garnered much attention among the research presented at ASHG, with a total of 78 abstracts mentioning the latter. Research of genetics in psychiatric disease seems to be gaining steam as both Schizophrenia and Anxiety Disorder appeared among the top 15 most mentioned diseases. We identified 501 diseases appearing only once among ASHG abstracts, again demonstrating the unique and wide range of research interests among labs and institutions making their way to Houston.
Overall, the research trends at ASHG exhibit the vast interest in genes and diseases of high impact to public health. Additionally, novel technologies are enabling the discovery and deep-dive into rare disease and previously unexplored genes.
Here are the top 15 diseases: