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.

Top Genes

top genes ashg19

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:

Gene Count
BRCA1 19
TP53 9
BRCA2 9
ARCN1 7
CFTR 7
GBA 6
FMR1 5
APOE 5
HTC2 3
HNF4A 3
GCK3 3
AAVS1 3
PALB2 3
INS 3
Top Diseases

topdiseasesashg19

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:

Disease Count
Intellectual-Disability 116
Breast-cancer 97
Developmental-delay 93
Obesity 87
Schizophrenia 86
Alzheimers-disease 84
Cardiomyopathy 58
Autism 57
Ovarian-cancer 53
Anxiety-disorder 44
Colorectal-cancer 36
Lung-cancer 29
Prostate-cancer 26
Cystic-fibrosis 25
Neurodevelopmental-Disorder 24
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