The #gnomAD browser now includes variant co-occurrence counts by gene. We hope this will help with interpretation of co-occurring variants in the context of recessive conditions. Read more about this feature on our blog post broad.io/gnomAD_co_occu… #ACMGMtg23

Ne râtez pas le séminaire BioinfoDiag à Rouen du 15 au 17 mai!

An article published in Genome Biology presents JBrowse 2: a general-purpose genome browser offering enhanced visualization of complex structural variation and evolutionary relationships. genomebiology.biomedcentral.com/articles/10.11…

🗓️[9èmeCongrèsSFMPP] Pas encore inscrit ? C'est encore possible, c'est ici! 👉shorturl.at/cmyKP ou consulter à nouveau le programme c'est par là : shorturl.at/bnpAN

Just released: ACMG SF v3.2 List for Reporting of Secondary Findings in Clinical #Exome & #Genome #Sequencing. This update adds 3 cardiovascular genes - CALM1, CALM2 & CALM3 - to recommended minimum gene list with a description of the factors considered. bit.ly/3pgldLL

📢 New in AJHG 📰 Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on #splicing: Recommendations from the ClinGen SVI Splicing Subgroup 👇 rb.gy/lzkii

A review providing an update on short tandem repeats in the age of genome sequencing. nature.com/articles/s4143…

What is the best strategy to quantify mRNA isoforms? Short-read RNA-seq to achieve high depth? Or long reads to get unambiguous read-isoform assignments? In our latest work with Hani Goodarzi, we show that what we really need is to combine both! (1/n) biorxiv.org/content/10.110…

La réunion 2024 du réseau NGS-Diag se déroulera le 5 décembre sur la thématique de la methylation et pathologies germinales, en visioconférence. Save the date!

The European Rare Diseases Research Alliance ERDERA kicks off with a bold vision to make Europe a global leader in rare diseases research and innovation. 🚀 Read press release🗞️erdera.org/wp-content/upl…​ 🌍💙 #ERDERA #RareDiseases EUScience&Innovation🇪🇺 Horizon Europe🇪🇺 Inserm

It's time to raise awareness! Join us for World Mitochondrial Disease Week from Sept 16-22, 2024. Together, we can shine a light on mito and support those living with this rare disease. #WorldMitoWeek2024 #MitoAwareness

SVbyEye: A visual tool to characterize structural variation among whole genome assemblies biorxiv.org/content/10.110…

The latest preprint from our team Human Genetics Nijmegen, Radboudumc. 93% HiFi genomes to test clinical utility for 100 cases with very difficult to detect pathogenic variants. Suggesting this could become the genetic first tier test in diagnostics: “one test fits all”: medrxiv.org/content/10.110…

Un grand bravo pour le fruit de ce travail collaboratif coordonné par le Dr Svetlana Gorokhova, « Homogénéisation de l’interprétation de variants de séquence générés par les analyses par séquençage à haut débit ». Svetlana Gorokhova medecinesciences.org/10.1051/medsci…

Forthcoming guidance will recommend labs report VUS subclasses. We share experience of 4 labs including rates of reclassification of VUS subclasses. By highlighting VUS-high and downplaying VUS-low, this will be game-changing for dx genetic testing. buff.ly/3Cpx5RL

I know many of you have been awaiting us launching transcript expression data in gnomAD. We were waiting for the GTEx v10 release which is now out so we are finally able to launch this. Enjoy!!

Ne ratez pas la journée NGS Diag sur la thématique de la méthylation de l ADN et pathologies génétiques! Voici la version finale du programme ! forms.gle/m3ZJDBkP3Ahw4U…

New online! Diversity and consequences of structural variation in the human genome bit.ly/4g1ZQSQ