GitHub - tycheleturner/snow: Second-pass de Novo variant Offspring Workflow Second-pass de Novo variant Offspring Workflow. Contribute to tycheleturner/snow development by creating an account on GitHub.

❄️ 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

https://www.nikonsmallworld.com/galleries/2012-photomicrography-competition/sound-receptor-hair-cells-in-the-inner-ear-cochlea-of-a-mouse """ Image of Distinction 2012 Photomicrography Competition Sound receptor “hair cells” (bright green) in the inner ear cochlea of a mouse James H. Nicholson Dr. Hanian Lang, Dr. Sylvia Galloway Affiliation Coral Culture and Collaborative Research Facility MUSC/NOAA/NOS/NCCOS Department of Pathology & Lab Medicine Charleston, South Carolina, USA Technique Confocal Magnification 40x """

www.nikonsmallworld.com/galleries/20...

#cochlea #ear #microscope

Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26) Age-related hearing loss (presbycusis) is a significant problem in the population. The genetic contribution to age-related hearing loss is estimated to be 40%–50%. Gene mutations that cause nonsyndrom...

"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 A wide range of applications in life science research benefit from the availability of three-dimensional structures of biological macromolecules as th…

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

Sex bias in autism drops as age at diagnosis rises The disparity begins to level out after age 10, raising questions about why so many autistic girls go undiagnosed earlier in childhood.

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...

The monk who discovered the laws of genetics—but was overlooked in his time Mendel’s monastery garden experiments went largely unnoticed during his life, but their implications would ripple through science decades later.

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...

Camp RicStar Explore the remarkable story of a one-of-a-kind music camp for people with disabilities.

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 KCNQ2 potassium channel variants are linked to developmental and epileptic encephalopathy (DEE). However, the mechanisms by which pathogenic variants, especially those outside known hotspots, such as ...

"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 Through systematic evaluation of 290 individuals with ACTB or ACTG1 variants, we delineate eight non-muscle actinopathies with distinct clinical profiles. Clear genotype-phenotype correlations, charac...

"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 - npj Systems Biology and Applications npj Systems Biology and Applications - Biophysical simulation enables segmentation and nervous system atlas mapping for image first spatial omics

"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 www.biorxiv.org/content/10.64898/2026.02...

Unlocking Ethiopia’s genomic landscape and its global significance: a call for inclusive genomics research - Human Genomics Human Genomics - Ethiopia, located at the intersection of Africa and Eurasia, is a hub of human genetic diversity and cultural richness. Its proximity to the Middle East has historically positioned...

"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 Neurogenomics has provided exceptional insights into the genetic architecture underlying autism spectrum disorder (ASD), which is increasingly underst…

"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 At PSD, the N-cadherin-δ-catenin-ABP/GRIP complex functions as an anchor for GluA2. Heterozygous δ-catenin KO and G34S mice show impairments in social behavior and fear learning and memory. Only KO ha...

"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

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

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.