We introduce trio-barcoded @nanoporetech.com adaptive sampling (TBAS), which allows targeted sequencing of one trio in one flowcell. We tested it on HG002-4+13 trios from GREGoR. TBAS and pipeline accurately report causative SNV, SV&TRs. @sedlazeck.bsky.social www.medrxiv.org/content/10.1...

The SMaHT marker paper is now live in @nature.com 🧬 This landmark study characterizes somatic variation across 19 tissue types from 150 nondiseased donors, laying the groundwork for future discoveries in health, aging, and disease. Read the full paper: www.nature.com/articles/s41...

Long reads such as @nanoporetech.com or @pacbio.bsky.social can provide insights into epigenetic. We @yileifu.bsky.social & @timp0.bsky.social )summarize the latest #Bioinformatics approaches & why this matters! Out now @natrevgenet.bsky.social at: bit.ly/4cjxUtl @bcmhouston.bsky.social @jhu.edu

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 @sedlazeck.bsky.social and @timp0.bsky.social for this great work!

New online! Diversity and consequences of structural variation in the human genome

Had a great lab retreat on Saturday at rice together with @svillapol.bsky.social and @treangen.bsky.social lab. Amazing talks, discussions and overlap of interests. Won't be the last one :)

www.sciencedirect.com/science/arti... Check out our newest paper about comparing long- and short- read metagenome sequencing and EpicPCR when it comes to ARG detection in wastewater. Great collab with Esther Lou and Lauren Stadler lab @RiceCEE and my former lab Qi Wang, @treangen.bsky.social

Great day in my life!! Finally defended my Ph.D.! I can’t do this without the guidance of my Ph.D. advisor @treangen.bsky.social and my co-advisor @sedlazeck.bsky.social ! I’ll soon join @sedlazeck.bsky.social ’s group at as an postdoc focusing on cancer genetics and cancer epigenetics.