.The DECIPHER Project v11.25 is here. This update introduces new features including the display of functional data from multiplexed assays of variant effects (MAVEs) to assist variant interpretation and much more. ebi.ac.uk/about/news/upd…

ClinGen and GA4GH are excited to announce the formation of the Clinical Genomics Laboratory Community. Do you work in a clinical genomics laboratory, or develop platforms or databases that support these laboratories? We'd love to hear from you ga4gh.org/community/clin…

First day of the #CuratingClinicalGenomes, celebrating the the 10yrs of ClinGen and the 20 yrs of The DECIPHER Project About 120 countries attending either in-person or virtually. First session: panel discussion entitled "Panels vs Exomes vs Genomes?"

Unique very own Sarah Wynn talking about the impact of how we name rare genetic conditions on families at ClinGen and The DECIPHER Project Curating the Clinical Genome Conference in Baltimore. #ccg2024 Genetic Alliance UK Breaking Down Barriers Bill Newman

Jeremy Arbesfeld presenting pivotal work ccg2024g about a framework for mapping MAVE data, which has allowed DECIPHER and other resources to display MaveDB data ClinGen Atlas of Variant Effects Alliance Alan Rubin

Gene2Phenotype being presented at #ccg2024 – tools to facilitate diagnostic genomic variant filtering vaginalicker420 EMBL-EBI

DECIPHER version 11.26 has been released. See the new features at deciphergenomics.org #variantinterpretation

#AlphaMissense scores from Google DeepMind are now displayed on @Ensembl #VEP annotation tabs - these scores categorise single nucleotide missense variants as either likely pathogenic or likely benign EMBL-EBI #genomics pic.x.com/zdiholqeuj

A Genome Aggregation Database CNV genome browser track is now available which displays rare coding autosomal CNVs called from exome sequencing of 464,297 individuals included in gnomAD v4.1. pic.x.com/7ftaxkmy0l

Our gene pages now link out to Open Targets Platform associations pages — view diseases associated with your gene and explore relevant genetic, pathway, drug, bibliography evidence and more. pic.x.com/uu4okzvsxu

📅Save the date! ✅Feb 3-5 2025 🧬Fundamentals 🧬of Variant Interpretation 🧬in Clinical Practice 📌Hinxton, nr Cambridge A cutting-edge update on evolving topics for experienced geneticists as well as a foundation for those new to the subject. DM for further information

Our FREE #OnlineCourse designed to support scientists develop #genome variation classification & interpretation skills, starts on 29 July. #FLGenomicVariantsDiversity 📎 Find our more: bit.ly/3R7G7aK #Genomics #Genetics #PersonalisedMedicine

Girish Katta Zane Lombard The DECIPHER Project Aimé Lumaka African Rare Diseases Initiative H3ABioNet Victoria Nembaware AfSHGenetics AfricanSocHumGenet ACMG Watch the trailer to discover more about #FLGenomicVariantsDiversity from our educators! Hear about what you will learn, live over 3 weeks, through hands-on exercises delivered via FutureLearn.  🎥 i.mtr.cool/stfhxputzj

DECIPHER version 11.27 has been released. See the new features at deciphergenomics.org #variantinterpretation

UTRannotator scores are displayed on annotation tabs for variants in 5’untranslated regions that create/disrupt upstream open reading frames Nicky Whiffin Xiaolei Zhang 张小蕾 #noncoding

The structural variant genome track has been updated to Genome Aggregation Database v4.1 – 1,199,117 high quality structural variants identified in 63,046 genomes from unrelated individuals

Regional missense constraint data displayed in the genome and protein browser tracks has been updated to Genome Aggregation Database v2.1.1

Julia Forman, DECIPHER project leader, is named Co-Chair of the Atlas of Variant Effects Alliance (AVE) Data Coordination and Dissemination Workstream : brotmanbaty.org/news/julia-for… #varianteffects

UK Clinical Genetics BSGM UK Cancer Genetics Group The DECIPHER Project Helen Firth James Fasham Kaitlin Samocha AGNC Nicky Whiffin Diana Baralle Why attend #ClinicalGen25? 🗣️ We'll be joined by leading speakers including: Caroline Wright, Clare Turnbull- Prof/NHS Dr, James Fasham, and James Ware 🖥️ Master online tools (The DECIPHER Project) 🧬 Workshops on cancer and cardiac genetics using DECIPHER 🗓️ Join us 3-5 February 2025

Join the DECIPHER team and leading experts at the Clinical Genomics - Fundamentals of Variant Interpretation in Clinical Practice course in February 2025. Application deadline 26 November 2024