Excited to attend #eshg2025 in vibrant #Milano and present latest results - poster is already mounted. Looking forward to inspiring talks and discussions as well as gelato.

We solved a puzzling case of Incontinentia Pigmenti by phasing a pathogenic variant in IKBKG to the preferentially inactivated X chromosome and at the same time discriminating gene from pseudogene using #Nanopore long reads.
#HumanGenetics #IncontinentiaPigmenti #XInactivation #LongReads

Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti Incontinentia pigmenti (IP) is a rare hereditary disorder affecting 1.2 in 100,000 live births, predominantly females. Genetic analysis of IP is complicated by a homologous pseudogene, making convent...

Quite excited to share our latest publication: Incorporating #Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti
onlinelibrary.wiley.com/doi/full/10....

May I join please?

Here is a great summary of genomic visualization tools: cmdcolin.github.io/awesome-geno...

Bluesky for Science Bluesky starter packs for genomics, bioinformatics, R, and Nextflow

Bluesky for Science

Starter packs for genomics, bioinformatics, #Rstats, Nextflow. Moderation lists. Feeds. Let's rebuild the old scitwitter community and keep this place nice

blog.stephenturner.us/p/bluesky-fo... 🧬🖥️🧪

BlueSky: A Guide for Scientists by @jacoates.bsky.social

#AcademicSky #EduSky 🧪

Hot off the press: Evaluation of Automated Magnetic Bead–Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing - Journal of Clinical Laboratory Analysis onlinelibrary.wiley.com/doi/10.1002/... #RepeatExpansion #Nanopore #Genomics #DNA