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...

5 Base DNA Germline WGS | DRAGEN

Thanks for mentioning me Sina! Unfortunately I don't have the BAM file directly. help.dragen.illumina.com/product-guid... Maybe this link can help in some way..

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!

Diversity and consequences of structural variation in the human genome Nature Reviews Genetics, Published online: 21 January 2025; doi:10.1038/s41576-024-00808-9Collins and Talkowski provide a broad overview of structural variation in the human genome that covers their mutational properties, the dynamics of population…

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 :)

Sensitivity and consistency of long- and short-read metagenomics and epicPCR for the detection of antibiotic resistance genes and their bacterial hosts in wastewater Wastewater surveillance is a powerful tool to assess the risks associated with antibiotic resistance in communities. One challenge is selecting which …

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

Thank you Daniel!

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.