To make it easier to draw connections between changes in individual genes, the resulting structure of the proteins they code for and their ultimate impacts on human health and disease, a trio of Big Pharma companies has launched a publicly available search engine to parse genomic data from over 280,000 people.
Maintained by the Broad Institute of MIT and Harvard, researchers at AbbVie, Biogen and Pfizer provided data and guidance for single-variant and gene-based association testing spanning 3,817 phenotypes, built on exome sequence data gathered from the UK Biobank.
The Genebass database, for gene-based association summary statistics, also allows users to browse through the genes associated with different conditions—such as levels of HDL, or “good” cholesterol, or platelet and red blood cell counts—by pairing and comparing people’s genomes and their medical test results on a large scale.
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“Human genetics has been foundational to understanding disease etiologies and is a first step to finding solutions to some of humanity’s most devastating diseases,” said Sir Rory Collins, UK Biobank’s principal investigator and chief executive.
“Our hope is that this information will allow researchers to better understand the human genome and identify therapeutic strategies that can specifically target the underlying causes of disease,” Collins added. The UK Biobank Exome Sequencing Consortium was formed in 2018, which includes industry partners in addition to AbbVie, Biogen and Pfizer.
Genome- and phenome-wide association studies have helped uncover some of the hidden mechanisms linked to various conditions such as Alzheimer’s disease. This past April, researchers at Massachusetts General Hospital reported 13 specific mutations that lead to changes in how the brain’s synapses transmit signals and the loss of neurons as well as broader neuroplasticity. Previously, those researchers found mutations related to amyloid buildup in addition to variants associated with brain inflammation.
And, last year, genomic analyses of tumor samples by researchers at the National Cancer Institute found some of the molecular underpinnings behind groups of patients who show exceptionally strong responses to treatment.
This includes proteins linked to the ability to repair damaged DNA, certain activity among intracellular signaling pathways and immune cells and “prognostic genetics,” or tumors with specific features later associated with favorable therapy outcomes.