We announce the beta release of the first gnomAD long-read (gnomAD-LR) resource, comprising long-read genome sequencing (lrGS) data from …

Overview
Today we announce the latest update to our tool, the Genetic Prevalence and Incidence Estimator (GenIE, https://genie.broadinstitute.org), which now includes estimates of genetic incidence of de novo variation (GIDNV). This new feature uses gnomAD v4.1.1 constraint data to estimate the frequency of suspected de novo disease-causing variation at zygote creation.

Today, we released gnomAD v4.1.1, which includes an update to our gene constraint metrics, LOFTEE flags, and a minor update to other flags and annotations. In this blog post, we discuss the improvements incorporated in this release, our new LOEUF threshold recommendations, and guidance around interpretation of the gene constraint metrics.

We’re excited to announce the addition of mitochondrial genome (mtDNA) constraint metrics to gnomAD, developed using data from over 56,000 individuals in gnomAD v4.1^1,2. These new metrics are designed to identify regions of the mtDNA under strong selective pressure that are thus most likely to harbor functionally important and disease-associated variants. The gnomAD browser now features mitochondrial gene constraint and regional constraint metrics.

Announcement

We have now released an extension of local ancestry-informed frequency work from the inferred Admixed American genetic ancestry group to the inferred African/African American genetic ancestry group (n=20,805) within gnomAD v4.0. This implementation of local ancestry inference (LAI) resolves the admixed ancestries of African/African American samples into their respective African and European haplotypes, leading to better-informed functional and/or clinical classifications.

Overview

Today we announce the release of a new tool, the Genetic Prevalence Estimator (GeniE, https://genie.broadinstitute.org), which uses gnomAD allele frequencies to estimate the genetic prevalence of autosomal recessive diseases. This tool was developed in partnership with the Chan Zuckerberg Initiative Rare as One Network. By removing the need for computational expertise, GeniE makes estimating the genetic prevalence of rare recessive disease more accessible to the entire genomics community.

We have released gnomAD v4.1, an update to our latest major release. This update fixes the allele number issue in gnomAD v4.0 previously…

Today, we are delighted to announce the release of gnomAD v4, which includes data from 807,162 total individuals. This release is nearly 5x…