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An encyclopedia of more than 92 million enhancer–gene regulatory interactions created as part of the ENCODE4 project provides a valuable resource for future studies of gene regulation and human geneti...

Welcome! You are invited to join a meeting: AnVIL 101 Virtual Workshop 2026. After registering, you will receive a confirmation email about joining the meeting.

Background With the surge in the number of variants of uncertain significance (VUS) reported in ClinVar in recent years, there is an imperative to resolve VUS at scale. Multiplexed assays of variant e...

Contribute to BalliuLab/FastGxC development by creating an account on GitHub.

Connect with the AnVIL Community!

Please use this form to submit an abstract (300 word limit) to the AnVIL Community Conference 2026 in Cambridge, MA. The conference will take place from August 31 - September 1, 2026. In-person attend...

YouTube video by Impact of Genomic Variation on Function

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from...

Rare diseases affect a small percentage of the population, but collectively, they impact millions. The University of Washington Genetic Analysis Center (GAC) plays a key role in efforts aimed at disco...

The findings have provided answers to families that until now had no diagnosis for their child's condition.

An update on the work of the GREGoR Consortium, whose mission is to guide the rare disease community toward finding genetic diagnoses.

YouTube video by Variant Effects

YouTube video by Impact of Genomic Variation on Function

Below is a list of proposed features currently under consideration for inclusion in the next major release of DGIdb. Each feature is grouped by category and includes a brief description. We ask that y...

November 2025 Release

Learn about the major accomplishments of the consortium’s first five years and the frontiers in genomic medicine that researchers will tackle next.

YouTube video by HumanGeneticsSociety

When a doctor suspects their patient might have a genetic disease, they can test a person’s genome to find differences (variants) that might cause the symptoms. However, it can be challenging to find…

The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.

The GREGoR consortium provides foundational resources and substrates for the future of rare disease genomics.