🔔The SPARK NS Learning Center is now available to all researchers interested in or currently developing therapeutics for autism, Parkinson’s, and adjacent conditions. Researchers working in other areas can also request access. *It’s free!* Learn more and request access: na2.hubs.ly/H06n27-0

Sharing my perspective "What Comes After Precision Genomics? Genomic Configurations," now available on Zenodo, Thoughtful comments and constructive criticism are welcome. For more substantive discussion, please feel free to contact me directly by email. zenodo.org/records/2126... #genetics #genomics

In work led by @lalli.bsky.social, we present recombination maps and a diverse haplotype reference panel (1000 Genomes Project) for the T2T-CHM13 human reference genome. These resources improve the accuracy of phasing and imputation, especially around common CNVs. www.biorxiv.org/content/10.1...

@tycheleturner.bsky.social and the Turner lab were recently highlighted by the Gabriella Miller Kids First Data Resource Center kidsfirstdrc.bsky.social for developing CAVATICA genomic analysis tools that streamline the path from Kids First data access to analysis. kidsfirstdrc.org/turner-lab-t...

Excited to share a new paper on sex-aware genome-wide assessment of de novo variants (DNVs) in autism. The complete DNV callset and supplementary analyses are available in the Supplement to the paper. link.springer.com/article/10.1... #genomics #genetics #denovo #autism @washugenetics.bsky.social

The faster you can analyze data, the faster discovery follows. New tools from The Turner Lab, led by tycheleturner at #WashU, are on #CAVATICA. Streamline how researchers analyze #KidsFirstData and help them turn discovery into insight faster. Explore how: https://monkeylink.co/7b09d7

❄️ Introducing SNOW - the Second-pass de Novo variant Offspring Workflow. A Python toolkit for cleaning, merging, phasing, and annotating de novo variants from trio sequencing data for QC and downstream analysis ☃️ github.com/tycheleturne... #genomics #bioinformatics #denovo

Outreach from @TNTurnerLab @washugenetics.bsky.social: We have built new state of the art #genomics software out of necessity for current research on neurodevelopmental disorders, and it’s proving useful beyond NDDs. First white paper out today: CNPI (zenodo.org/records/1884...) #GenomicsWhitePapers

WashU Rare Disease Day was wonderful today. Stephanie Snow-Gebel gave my favorite talk, and this quote really stuck with me: “Awareness is not vanity. It’s velocity!” 🔥 @rarediseaseday.bsky.social @pattidickson.bsky.social #SnowFoundation

www.nikonsmallworld.com/galleries/20... #cochlea #ear #microscope

"Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)" www.cell.com/ajhg/fulltex...

"Sex Limited Inheritance in Drosophila" #classic #genetics www.jstor.org/stable/1635471

"A novel homecage operant paradigm reveals circadian and behavioral dynamics of social motivation in mice" www.biorxiv.org/content/10.1...

"ModelArchive: A Deposition Database for Computational Macromolecular Structural Models" www.sciencedirect.com/science/arti...

An analysis of nearly 3 million people in Sweden reveals that the sex disparity in children with autism decreases with age. Researchers continue to explore why women are often diagnosed later, given the value of early diagnosis. By @helenak.bsky.social www.thetransmitter.org/spectrum/sex...

How Gregor Mendel’s pea plant experiments created modern genetics www.nationalgeographic.com/science/arti...

"Large-scale discovery of neural enhancers for cis-regulation therapies" www.biorxiv.org/content/10.1...

Award-winning and now on PBS 🎶
 Camp RicStar is the incredible story of a #music therapy camp created in honor of one of my best friend’s Eric “RicStar” Winter, and it’ll hit you right in the heart (in the best way). Also, my mom is featured in the documentary!
@pbs.org www.pbs.org/show/camp-ri...

"Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy" www.jneurosci.org/content/46/3...

"Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies" www.cell.com/ajhg/fulltex...

"Biophysical simulation enables segmentation and nervous system atlas mapping for image first spatial omics" www.nature.com/articles/s41...

Transient activation of potent progenitor cells is required for spinal cord regeneration https://www.biorxiv.org/content/10.64898/2026.02.04.703854v1

"Unlocking Ethiopia’s genomic landscape and its global significance: a call for inclusive genomics research" link.springer.com/article/10.1...

"Recent advances in the neurogenomics of autism spectrum disorder" www.sciencedirect.com/science/arti...

"δ-catenin haploinsufficiency is sufficient to alter behaviors and glutamatergic synapses in mice" www.ibroneuroscience.org/article/S030...

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

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

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!

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

❤️ 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

🐭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...

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

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

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

Our new collaborative preprint is online now “Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes” www.medrxiv.org/content/10.1... and is the result of many colleagues working together towards understanding of 9p-related syndromes #genomics #genetics #9p

Excited to share new joint publication with the Tychele Turner lab at WashU now published in Cell Genomics! We do a proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancers and find some interesting differences! tinyurl.com/2p9j559n

Just curious, has anyone ever generated a complete T2T human genome assembly using only PacBio HiFi data? www.pacb.com/vega-genomes... If yes, that would be awesome. Please post the link.

Our new paper is online today in Cell Genomics “Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer” www.cell.com/cell-genomic... #genetics #protein #cancer #neurodevelopmentalDisorder #TNTurnerLab @washugenetics.bsky.social

Today, TNTurnerLab undergraduate researcher Emily Cordova Hurtado presented her project “Generation and Characterization of a Knockout Mouse of an Enhancer of EBF3” @washugenetics.bsky.social department seminar today! #genetics #genomics