Atlas of Variant Effects Alliance:
Precision medicine at nucleotide resolution
Art by Uta Mackensen (CC BY-ND) Image Description: Background: A world map and chromosome idiogram. Foreground: People moving amongst and inspecting larger than life Variant Effect Maps of clinically important genes BRCA1, HMBS, MTHFR and TDP-43.
The vision of the Alliance is to create comprehensive variant effect maps for important regions of human and human pathogen genomes that could ultimately assist in the diagnosis, prognosis and treatment of disease. The goal of our Alliance is to bring together data generators, curators and consumers, along with funders and other stakeholders, to set standards, share tools and develop strategy.
By describing the effects of variants in the genome, the atlas will accelerate and empower biological research, drug discovery and medical practice.
Graphic Credits: kjpargeter Freepik, Sayeh Gorjifard and Uta Mackensen
21 May 2025, PRBB , Barcelona, Spain.
Mutational Scanning Symposium 2025
Event jointly organized by : Institute for Bioengineering of Catalunya (IBEC) and Centre for Genomic Regulation (CRG)
20 February 2025.
Dr. David Adams, founding member of the Atlas of Variant Effects Alliance, will be a featured speaker at the Eighth Annual 2025 Mutational Scanning Symposium, May 21 to 23, in Barcelona.
6 May 2025.
Mustafa Tekpinar earned his PhD in Physics from the University at Buffalo and completed two postdoctoral fellowships in France—one at the Institut Pasteur and the other at Sorbonne University, where he focused on studying the pathogenicity of variants in the MEFV gene. He is currently an associate professor at Van Yüzüncü Yıl University in Turkey.
Broad Mutational Scanning Symposium
Toronto Lab
Clare Turnbull and Shawn Fayer
MAVE workshop
MAVE workshop
Hasan and Marcin Marsh Lab
Cell Factories
Broad Mutational Scanning Symposium
Broad Mutational Scanning Symposium
Broad Mutational Scanning Symposium
Saturation Genome Editing Team
