The GWAS Catalog now holds 625,113 curated SNP-trait associations from 6,921 publications plus >85K summary statistics datasets, with a new GWAS-SSF submission standard and GRCh38 harmonisation.

Nucleic Acids Research · Oct 22, 2024Peer-reviewedGenetics✦ In-depth digest

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

Caroline Fiona Wright, Nicholas M. Quaife, Laura Ramos-Hernández, Petr Danecek, Matteo Paolo Ferla, Kaitlin E. Samocha, Joanna Kaplanis, Eugene J. Gardner, Ruth Y. Eberhardt, Katherine R. Chao, Konrad J. Karczewski, Joannella Morales, Giuseppe Gallone, Meena Balasubramanian, Siddharth Banka, , Nicola Whiffin

The paper identifies non-coding variants upstream of MEF2C causing severe developmental disorder through three distinct loss-of-function mechanisms, showing their diagnostic importance in existing exome datasets.

The American Journal of Human Genetics · May 21, 2021Peer-reviewedGenetic & Genomic Medicine

Whole-genome sequencing of rare disease patients in a national healthcare system

Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan C. Stephens, Rutendo P. Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, , Rachel J. Buchan

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

Nature · Jun 24, 2020Peer-reviewedGenomics

A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog

Joannella Morales, Danielle Welter, Emily Bowler-Barnett, María Cerezo, Laura Wiseman Harris, Aoife McMahon, Peggy Hall, Heather Junkins, Annalisa Milano, Emma Hastings, Cinzia Malangone, Annalisa Buniello, Tony Burdett, Paul Flicek, Helen Parkinson, , Jacqueline A. L. MacArthur

The paper introduces a standardized framework for ancestry data representation in genomics studies and applies it to the NHGRI-EBI GWAS Catalog to improve data integration and analysis.

Genome biology · Feb 15, 2018Peer-reviewedGenetics