International gnomAD Consortium releases its first major studies of ...

International gnomAD Consortium releases its first major studies of human genetic variation. Analyses of the largest publicly available catalog of human ...

gnomAD v2.1

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of ...

PacBio and International Research Consortium CoLoRS Announce ...

PacBio and International Research Consortium CoLoRS Announce Release of First-Ever HiFi Long-Read Variant Database ... gnomAD, as long reads ...

International Consortium Completes Human Genome Project

That standard was first achieved for a human chromosome when a team of ... NHGRI and its partners in genome research have already begun tackling a number of these ...

Variant interpretation using population databases: Lessons from ...

Display of robust allele frequencies across the database (global) and within continental populations is a main feature of gnomAD. An ...

gnomAD v4.0

This release is nearly 5x larger than the combined v2/v3 releases and consists of two callsets: exome sequencing data from 730,947 individuals, ...

The mutational constraint spectrum quantified from variation ... - Nature

... studies into the Genome Aggregation Database (gnomAD). We identify 443769 high-confidence predicted loss-of-function variants in this cohort ...

Genomic data in the All of Us Research Program | Nature

To accelerate health research, All of Us is committed to curating and releasing research data early and often. Less than five years after ...

A harmonized public resource of deeply sequenced diverse human ...

To this end, we first extracted from gnomAD jointly called variants from 4,150 whole genomes recently sequenced to high coverage from the ...

Genome sequencing of 2000 canids by the Dog10K consortium ...

The international Dog10K project aims to sequence and analyze several thousand canine genomes. Incorporating 20 × data from 1987 individuals ...

Consortia & Collaborations - Talkowski Lab

The Mendelian Genomics Research Consortium (MGRC) at ... In its first release, which contained ... The IHCC aims to create a global platform for ...

Ensembl Variation - Population allele frequencies & genotypes

We provide allele frequency data from a range of different projects including the 1000 Genomes Project and the genome Aggregation Database (gnomAD). Genotype ...

Genome Aggregation Database (gnomAD)

The Genome Aggregation Database (gnomAD) is a resource developed by an international ... released for the ... major versions, have historically been issued on the ...

Variant interpretation using population databases - arXiv

Display of robust allele frequencies across the database (global) and within continental populations is a main feature of gnomAD. An ...

PacBio and International Research Consortium CoLoRS Announce ...

PacBio and International Research Consortium CoLoRS Announce Release of First-Ever HiFi Long-Read Variant Database ... gnomAD, as long reads ...

Long-read genome sequencing in unsolved rare genetic diseases

The gnomAD v4 release adds ~3 fold additional global diversity with the inclusion of. ~ ... For the first time we now calculate a single ... major growth in the ...

AACR Project GENIE: 100000 Cases and Beyond | Cancer Discovery

The GENIE Consortium after 5 Years. The registry is backed by an international consortium of academic researchers dedicated to precision ...

Analysis of coding variants in the human FTO gene from the ExAC ...

polymorphisms (SNPs) in the first intron of the gene. ... The Gnomad Consortium Releases First Studies of Human Genetic Variation. Am J Med. 251.

All Of Us Q2 2022 Release Genomic Quality Report

In this document, we describe the QC processes applied to both the genotyping array (“array”) and whole genome sequencing data. (WGS). We ...

News | gnomAD browser - Broad Institute

We are releasing inferred phasing data for all pairs of variants within a gene where both variants have a global allele frequency in gnomAD exomes <5% and are ...