E9 Genomics

Pharmaceutical firms, drawn by the potential of human genetics in therapy, invested heavily in large genomic datasets. Querying these datasets is slow and manual due to their massive and complex structure. E9 Genomics addresses this with purpose-built, scalable software for interactive genetic evidence queries, akin to a Google search. The team, with extensive experience at the Broad Institute, has powered projects like gnomAD and Hail, contributing to over 6 million rare disease diagnoses and analyzing the world's largest genomic biobank data. In 2020, the team behind E9 Genomics played a crucial role in analyzing 500,000 UK Biobank exomes in collaboration with three pharmaceutical companies, with accessible results through Genebass for comprehensive genotype-phenotype associations.

Driven by the promise of human genetics to improve the success rate of therapeutic programs amid rising development costs, pharmaceutical companies have invested hundreds of millions of dollars in human genetic sequencing projects for target discovery, validation, and safety assessment and have assembled internal teams of experts in statistical genetics and computational biology to leverage this data. However, querying these datasets for genetic evidence is slow and highly manual: Genomic datasets are massive with a unique multi-dimensional structure that makes it difficult to adapt traditional big-data tools from the tech industry to search genomic data efficiently. Performant genomic search at scale requires custom, scalable analysis software that companies currently must invest significant resources and time to build internally.

E9 Genomics is building software systems to permit interactive queries both across and within massive, complex genomic and biological data resources. These systems comprise a web-based control panel and search bar for genomic data, allowing scientists and decision-makers to interrogate genetic evidence as easily as if it were a Google search, making it possible to iteratively ask and answer questions – such as, “What is the distribution of loss-of-function variants in TNNT2 and MYH7 in South Asian patients with familial hypertrophic cardiomyopathy?” – in real-time, collaborative interactions. The team behind E9 combines decades of experience in building gnomAD and Hail. gnomAD has contributed to over 6 million rare disease diagnoses, with over 100,000 unique monthly visitors and over 50 million page views to date. Hail is used by hundreds of scientists across academia and industry and has powered some of the world’s largest genomic analyses: gnomAD, All of Us, and the UK Biobank Rapid GWAS.