A collaborator recently inspired me to revive plot-protein. The updated code is now on GitHub.

Here is a link to the gallery of example protein plots:
github.com/tycheleturne...

#plotProtein #bioinformatics #genomics #protein #plot

YouTube video by Gabriella Miller Kids First Data Resource Center ASHG 2025 Data Discovery Exchange, hosted by Kids First and INCLUDE

Video from the “ASHG 2025 Data Discovery Exchange, hosted by Kids First and INCLUDE” youtube.com/watch?v=g67z...
#kidsfirstDRC #TNTurnerLab @washugenetics.bsky.social #genomics #genetics #denovo

HAT-FLEX is a caller-agnostic, drop-in trio DNV detection tool that operates directly on existing VCFs. If you have feedback, please email or DM me. Thanks. github.com/TNTurnerLab/... #genetics #genomics #denovo

Generation and characterization of a knockout mouse of an enhancer of EBF3 Summary: This study focuses on the generation and initial characterization of a knockout mouse for a region of noncoding, regulatory DNA that was previously implicated in autism.

New paper in @BiologyOpen: “Generation and characterization of a knockout mouse of an enhancer of EBF3.”
@washugenetics.bsky.social @jacksonlab.bsky.social
journals.biologists.com/bio/article/...

Wow, @github.com contributions look different today. No green. It looks like corn 🌽

Happy Halloween!

12/
We are just getting started
The 9P-ARCH network is pursuing next steps to better understand these syndromes & their biology
Thanks to all the families, collaborators, team members, & current funders & future potential donors who are making this all possible. Appreciate all of you! 😀 TNTurner

11/
Conclusions
🌍 We introduced the 9P-ARCH network
This study is the largest & most comprehensive genomic analysis of 9p-related syndromes to date.

10/
Unexpected finding:
🧬 Individuals with 9p deletion syndrome show excess mitochondrial genome copy number.
Raises new questions about mitochondrial involvement in these syndromes.

9/
Gene prioritization
Using human variation + spatial transcriptomics, we identified 24 genes driving most cases of 9p deletion syndrome (83% of individuals).

8/
We found two late-replicating regions where most structural variant breakpoints occur.
➡️ Suggests replication-based issues are a major driver of structural variant formation in 9p deletion syndrome.

7/
Results
🔍 First detailed look at the genomic architecture of 9p syndromes.
✅ Found shared features & differences across individuals.
💻 Built a machine learning model to predict 9p deletion syndrome from WGS gene copy number data.

6/
Using our computational tools HAT and acorn, we also generated high-quality de novos from 5,824 autism trios (SPARK + SSC) and examined noncoding de novo variants on 9p

5/
We also updated denovo-db to v1.8 and it now includes 1,131,762 de novo variants from 72,794 trios.
 We tested for enrichment protein-coding de novo variants in genes on 9p using data from denovo-db

4/
We also built a new open-source computational tool: DiamondsDenovo
👉 Detects enrichment of de novo variants in genomic regions.

3/
Methods
We formed the 9P-ARCH network (Advanced Research in Chromosomal Health)
📊 100 individuals from families with 9p syndromes
🔬 WGS for all, plus other genomic tech for subsets
🧮 Gene prioritization via human genetics data and statistical testing + mouse embryo spatial transcriptomics

2/
Background
Until now, most work on 9p deletion & duplication syndromes relied on low-resolution methods (karyotypes, microarrays). They gave important first insights, but left many questions unanswered.
Our study is the first large-scale whole-genome sequencing (WGS) of 9p syndromes.

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes - Genome Medicine Background Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low-resolution strategies (i.e., karyotypes, chromosome microarrays). These studies have provided ...

1/
WashU research news; excited to share our new paper on Chromosome 9p Syndromes 🧬 Hope you take the time to read it. Here is the link:
link.springer.com/article/10.1...

@washugenetics.bsky.social

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes - Genome Medicine Background Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low-resolution strategies (i.e., karyotypes, chromosome microarrays). These studies have provided ...

❤️
link.springer.com/10.1186/s130...

Thank you to Dr. Evan Eichler for visiting #WashU and presenting in our Department of Genetics seminar series. An inspiring talk from one of my academic fathers! @washugenetics.bsky.social #genetics #genomics

Big milestone for the @TNTurnerLab as our very first postdoc officially started this week!
Welcome Arvinden to the team!
@WashUGenetics #genomics #genetics #noncoding #mpra #postdoc

Generation and Characterization of a Knockout Mouse of an Enhancer of EBF3 Genomic studies of autism and other neurodevelopmental disorders have identified several relevant protein-coding and noncoding variants. One gene with an excess of protein-coding de novo variants is E...

🐭This week the detail sheet for the enhancer knockout mouse we describe in doi.org/10.1101/2025... became available at the MMRRC www.mmrrc.org/catalog/sds..... Please check it out if you are interested in ordering the mice. #noncoding #enhancer #ebf3 #genomics #genetics @TNTurnerLab @WashUGenetics 🐭

Just an FYI: I am not, nor have I ever been, affiliated with Boston University. The ASHG program listed me there in error. I remain with Washington University in St. Louis @washugenetics.bsky.social. ASHG has been notified, and I appreciate those who reached out about the inaccurate listing.

Here’s to all my colleagues rocking bowties! Happy #BowtieDay! Shoutout to Sandy Boynton for the image. #Style #WorkLife

Check out our latest work co-led by @dcsoto.bsky.social and @jmuribescr.bsky.social identifying hundreds of human duplicated gene families using the new T2T-CHM13 assembly, with a focus on those potentially contributing to brain evolution 🧪: authors.elsevier.com/a/1lTQtL7PXu...

CNPI: Rapid Analyses of Human Copy Number Data Tools for genotyping copy number in whole-genome sequencing (WGS) data exist. Despite their availability, there are a limited number of tools that eff…

New from TNTurnerLab at WashUGenetics!

Check out our latest paper on efficient genome-wide copy number genotyping in WGS data: sciencedirect.com/science/arti...

Also explore the CNPI toolkit powering this work: github.com/TNTurnerLab/...

#genomics #WGS #copyNumber #cnv

Employment Students Graduate students in the Division of Biology & Biomedical Sciences at Washington University School of Medicine are welcome to contact Dr. Turner to discuss potential rotation projects.…

Currently, I have a a formal postdoctoral job listing for a position in @TNTurnerLab @WashUGenetics, See also turnerlab.wustl.edu/employment/ and wustl.wd1.myworkdayjobs.com/External/job.... #genomics #genetics #neuroscience #molecularBiology #computationalBiology #oncology #postdoc

Compass Foundational Training was issued by Compass Training and Mentoring Program at Washington University School of Medicine in St. Louis to Tychele Turner. The Compass program provides researchers with the training and mentoring they need to successfully launch their careers. Program Scholars receive guidance and tools to be intentional about leading the...

View my verified achievement from Compass Training and Mentoring Program at Washington University School of Medicine in St. Louis. www.credly.com/badges/7ac68... via @credly

Visium HD Spatial Transcriptomics of E13.5 Wild Type Mouse Head we generated in our preprint medrxiv.org/content/10.1... is now available on Zenodo doi.org/10.5281/zeno.... #genomics #genetics #9p #neuroscience #brain #development

⭐ In 2005, Git made its first commit.
⏩ Fast-forward to 2025, we relive the birth of Git with the creator, Linus Torvalds.
❤️ Head down memory lane with us.
github.blog/open-source/...

Happened upon this interesting website 42basepairs.com/browse. Came across it today when looking at some publicly available whole-genome sequencing data. #genetics #genomics