Sometimes it is worth looking back: We re-analysed and re-evaluated >5 year old exomes of 152 individuals with ID. In 18%, the classification has changed with clinical relevance. https://t.co/M5agElfssx
In addition, we will present 9 abstracts as posters. 😀
Great work by the team. It's going to be an awesome conference. See you there. 👋
https://t.co/AAjtnGR4dc
Anyone out there who is confident in interpreting short read and ONT long read data from the ATAD3 cluster? I am having a bit of a challenge making sense of it in a patient suspected to have a homozygous deletion/rearrangement?
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources #RareDisease#Genetics https://t.co/h3itoB8FZH
Missense Z scores based on @gnomad_project v4.1 are now available on gene pages.
These scores measure the amount that a gene is constrained for missense variants.
Direct RNA sequencing can only be done using @nanopore . I didn’t realize that there are 100+ different kinds of RNA modifications ! Slide also from Morghan Lucas, MGZ Munich
This is such a beautiful paper led by @ChristelDepienn and Caroline Nava, further characterising ReNU syndrome (caused by variants in RNU4-2) and also detailing a role for RNU5B-1 in NDD 🧬
Some highlights 🧵1/8
We explored why pathogenic variants are present in the gnomAD database for early-onset, severe, dominant conditions. Explanations identified for most but some likely due to incomplete penetrance though more study needed. 1/3
Thank you @RNASociety for your support, awarding me the @bio_eclipse graduate award in high-throughput biology for my PhD work with @nanopore sequencing, and for organising the #RNA24 conference!
Figeno, my visualization tool for genomics🎨🧬, is now published in Bioinformatics! https://t.co/ln22SewiZ7
It can generate publication-quality figures for sequencing data along genomic coordinates: bigwig, HiC, @nanopore data with base modifications, and WGS with CNAs and SVs.
The Chromatones on a post conference run this morning in Berlin. Thanks for bringing your energy to the dance floor the other night #ESHG2024@CelineLewis23