New research aims to take the study of the human genome to the next level

A global consortium of biologists, geneticists, mathematicians, clinicians, and other scientists is all set to elevate the study of the human genome to the next level—developing an exhaustive atlas of genetic variants to improve the understanding, diagnosis, and treatment of disease.

genomeImage Credit: Tartila/Shutterstock.com

This Herculean undertaking is unprecedented. Indeed, the scientific community has an increasingly comprehensive catalog of functional DNA elements in the human genome, but that catalog remains incomplete. We have collectively characterized the functional impact of less than 1% of genetic variation in the 1 to 2 percent of our DNA.”

Dr Matthew Hurles, Geneticist, Wellcome Sanger Institute, Cambridge, England

Dr Hurles and Dr Doug Fowler, a member of the Brotman Baty Institute for Precision Medicine (BBI) and professor of Genome Sciences at the University of Washington’s UW Medicine, intend to increase those percentages considerably.

Dr Hurles and Dr Fowler are the founding members of the Atlas of Variant Effects (AVE) Alliance, as well as co-authors of a white paper that describes what could be the most challenging task in the last three decades since the Human Genome Project.

In collaboration with BBI and the Center for the Multiplexed Assessment of Phenotype, AVE is co-hosting the fourth annual “Mutational Scanning Symposium”. This event will see the congregation of worldwide experts conducting state-of-the-art studies in protein science, precision medicine, functional genomics, and variant interpretation and prediction. The event will be held virtually for three days from Monday, April 5th, 2021.

The establishment of the AVE alliance and the consortium’s attempts to develop the atlas of human genome variants are the main matters to be covered at the meeting. In addition, the atlas will investigate technology development, data generation and data analysis, data sharing and coordination, as well as clinical and biological translation.

We’ve never known so much about naturally occurring variation in the human genome and now is the time to seize the opportunity to understand what that variation means for human health.”

Anna L. Gloyn, DPhil, Professor of Pediatrics, School of Medicine, Stanford University

Gloyn is also an Executive Committee member at AVE.

The focus of the preliminary efforts will be to measure the functional effect of single nucleotide variants at the genomic loci—mainly the human protein-coding genes—that provide the maximum and most instantaneous clinical utility.

The ultimate goal is to develop a systematic, extensive understanding of the functional impact of variants in human, model organism and pathogen genomes.”

Dr Doug Fowler, Member, Brotman Baty Institute for Precision Medicine

However, the field of variant effect mapping is already yielding major impacts. We believe and expect that a coordinated and phased approach with others globally could be transformative. The first major, ‘real world’ impact of the atlas of variant effects is expected to be improved genetic diagnosis and precision medicine,” Dr Fowler, concluded.

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