💡Finding non-coding disease causing variants is like finding needles in a haystack. Solution? Bring a magnet! Here we present BRAIN-MAGNET, an AI model trained on functional genomics that allows to interpret effects of SNVs in enhancers (1) #genetics #bioinformatics #raredisease

Vicente Yépez Solve-RD Steve Laurie German Demidov rita.matos #eahg2024 For the long-read data, if you’re interested here’s our preprint Wouter Steyaert Lydia Sagath Solve-RD medrxiv.org/content/10.110…

gReLU is a Python library to train, interpret, and apply deep learning models to DNA sequences github.com/Genentech/gReLU

Fibertools is published in Genome Research! Ultra-fast m6A calling for PacBio #Fiberseq. Seamless processing of any long-read epigenetic or genetic data. Wonderful collaboration (tinyurl.com/3t3zz29f) led by Mitchell R. Vollger Anupama Jha, PhD ([email protected]) and Dr. Bohaczuk. genome.cshlp.org/content/early/…

Our best attended educational session yet!We had the fantastic Dr Macken present his research & knowledge on Rare Mitochondrial Disease. It was a very insightful & informative talk.If you would like to learn more, read these papers rb.gy/dp324s rb.gy/2mbk1r

Inverted repeats are a hotspot of genomic instability. And a source of structural genomic diversity leading to #rarediseases. Exciting work with Christopher M. Grochowski, PhD Pacific Northwest Research Institute BCM HGSC Fritz Sedlazeck Anna Lindstrand Lupita Linares x.com/CellGenomics/s…

Phenotype, variant & gene queries, as well as genome-wide discoveries - all this is possible with the open access Solve-RD platform. Join our #EAN2024 workshop on June 29, 8:30 EEST with our coordinator Holm Graessner Holm Graessner! More information: ean-apps.m-anage.com/ean2024/en-GB/…

How constrained is each gene in the human genome? Our work on estimating gene constraint using loss-of-function mutations along with gene features (expression patterns across tissues, protein language model embeddings, etc...) is now officially out! 🧵/8 nature.com/articles/s4158…

I very much enjoyed writing this Nature News & Views piece on the RNU4-2 story. Please read on if you want to learn more about how a non-coding variant was discovered to be one of the most frequent causes for developmental diseases. (thx M. Rissom for sketch) nature.com/articles/d4158…

What does it take to switch over to BAM from FASTQ? Thought provoking article by Lee Katz @[email protected], Sean Sierra-Patev, and Dhwani Govil Batra ubinfie.github.io/2024/06/06/swi…

As part of GREGoR Consortium , we are excited to announce new guidance to encourage clinical labs to report novel candidate genes during clinical testing. We give criteria for triaging, sharing, and reporting novel genes through various methods. authors.elsevier.com/c/1jcDA3vlFV4E…

#ZNRF3 is a new #MorbidGene for NDD 👌 👇 AJHG

Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles nature.com/articles/s4158…

Clinical validation of RNA sequencing for Mendelian disorder diagnostics medrxiv.org/content/10.110…

Analysing and visualising pathway enrichment in multi-omics data using ActivePathways cran.r-project.org/web/packages/A… #rstats #bioinformatics

Molecular impact of mutations in RNA splicing factors in cancer cell.com/molecular-cell…

In our latest work, we explore the contribution of rare, typically inherited, damaging genetic variants to the risk of severe developmental disorders (DDs) and establish a major role for incompletely penetrant rare variation. Now out on medRxiv: medrxiv.org/content/10.110…

We’re thrilled to announce the publication of SpliceVarDB: A comprehensive database of experimentally validated human splicing variants in AJHG 🧬 📖 cell.com/ajhg/fulltext/… #splicing #GeneChat

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy #RareDisease #Genetics #morbidgene medrxiv.org/content/10.110…

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach. Well done ⁦Carolina Jaramillo Oquendo⁩ new paper for lab. transcriptome finds mutations not found by DNA first pass ⁦Jenny Lord⁩ ⁦⁦Htoo Aung Wai⁩ link.springer.com/article/10.118…