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STIX: Long-reads based Accurate Structural Variation Annotation at Population Scale biorxiv.org/cgi/content/sh… #biorxiv_bioinfo

Excited to see this finally published! Our latest work demonstrates how @Illumina short-read WGS data can resolve LPA KIV-2 repeat units, which is very significant for studying cardiovascular disease risks bmcmedgenomics.biomedcentral.com/articles/10.11… Fritz Sedlazeck Medhat Mahmoud Luis Paulin, PhD BCM HGSC

Free scientific illustrations for biologists! 😍 NIH has released a library of 500+ free scientific illustrations to create figures, presentations, and illustrations! all freely available in the public domain. Retweet and spread the message! bioart.niaid.nih.gov

On Thursday I will be presenting our latest results on #mosaicSV detection with Sniffles at #ASHG2024 Come and join the Human Genetic Mosaicism Feat. Symposium

New from the lab with Fritz Sedlazeck. Brilliant analysis by ⁦Michal Izydorczyk⁩ of long read ⁦Oxford Nanopore⁩ WGS from single human brain cells, after droplet MDA amplification in the Samplix X-drop. Funded by ⁦Aligning Science Across Parkinson’s⁩ ⁦UCL Queen Square Institute of Neurology⁩ medrxiv.org/content/10.110…

Our special issue is lout on long-read sequencing PacBio / Oxford Nanopore ! Part 1 ;) genome.cshlp.org/content/34/11.… Super excited about all the new work and special thanks to all the authors! Also want to thank Hillary Genome Research Alexander Hoischen AnaConesa

Thanks for highlighting the Twist Alliance Dark Genes Panel (Medhat Mahmoud & Fritz Sedlazeck et al. medrxiv.org/content/10.110…) and the Twist Alliance Long-Read PGx Panel from Twist Bioscience twistbioscience.com/products/ngs/L… Customization is also possible! twistbioscience.com/products/ngs/c…

1/ 🧵 So excited to finally share our preprint! Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation (SV) on gene expression and DNA methylation- A new genomic resource for brain research! 🧠✨biorxiv.org/content/10.110…

Clair3-RNA: A deep learning-based small variant caller for long-read RNA sequencing data 1. Clair3-RNA pioneers as the first deep learning-based variant caller tailored for long-read RNA sequencing (lrRNA-seq), tackling challenges like uneven coverage, RNA editing events, and

In an unprecedented move, research-grant reviews have been suspended indefinitely at the world’s largest public funder of biomedical research go.nature.com/4gclXG0

We are now accepting applications for scholarships to the Cold Spring Harbor Laboratory Biology of Genomes meeting from the jxtxFoundation. Open to students worldwide in support of open science. Please help spread the word! jxtxfoundation.org/news/2025-2-4-…

In honor of #RareDisease Week, learn more about how GREGoR Consortium goes beyond exome sequencing to find causes for unsolved rare genetic diseases: Beyond the exome: What’s next in diagnostic testing for Mendelian conditions AJHG cell.com/ajhg/fulltext/…

Radboudumc In collaboration with Fritz Sedlazeck et al. at BCM HGSC we developed a long-read Dark Genes panel that allows researchers to interrogate whatever was not accessible with short-read WGS by “Closing the gap: Solving complex medically relevant genes at scale” medrxiv.org/content/10.110…

We summarized state-of-the-art computational methods for DNA methylation analysis using long-read sequencing, covering everything from base calling to sample-level, cell-type-level, and even population-scale analysis. Huge Thanks to Fritz Sedlazeck and Winston Timp for this great work!

Stayed offline too long.. Several key papers came out (thanks to my group & great collaborators), thankful for great consortia meetings, might have a position in my lab opening, new lab homepage: fritzsedlazeck.github.io oh and got tenured (I know perfect timing ;)). Thanks all