Tychele Turner
@tycheleturner.bsky.social
PI & Assistant Professor at Washington University in St. Louis Precision Genomics ➡️ Genomic Configurations
🔔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
What Comes After Precision Genomics?
What Comes After Precision Genomics? Genomic Configurations A Perspective Tychele N. Turner, Ph.D.Department of GeneticsWashington University School of MedicineCorrespondence: tychele@wustl.edu
zenodo.org
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...
A T2T-CHM13 recombination map and globally diverse haplotype reference panel improves phasing and imputation
The T2T-CHM13 complete human reference genome contains ~200 Mb of newly resolved sequence, improving read mapping and variant calling compared to GRCh38. However, the benefits of using complete refere...
biorxiv.org
@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...
Gabriella Miller Kids First Data Resource Center (@kidsfirstdrc.bsky.social)
The Gabriella Miller Kids First Data Resource Center (Kids First DRC) is a collaborative pediatric research effort with a goal to understand the genetic causes and links between childhood cancer and c...
kidsfirstdrc.bsky.social
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
Sex-aware genome-wide assessment of de novo variants in autism across coding and noncoding regions - Human Genomics
Human Genomics - Autism spectrum disorder (ASD) shows a consistent sex bias, yet how sex shapes de novo variant (DNV) risk across coding and noncoding sequence remains unclear. I analyzed DNVs...
link.springer.com
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
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.
github.com
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
White Paper: "Copy Number Private Investigator (CNPI): making rare copy number changes usable at scale"
White Paper for CNPI TNTurnerLab, Washington University School of Medicine
zenodo.org
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
"Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)" www.cell.com/ajhg/fulltex...
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...
cell.com
"A novel homecage operant paradigm reveals circadian and behavioral dynamics of social motivation in mice" www.biorxiv.org/content/10.1...
biorxiv.org
"ModelArchive: A Deposition Database for Computational Macromolecular Structural Models" www.sciencedirect.com/science/arti...
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…
sciencedirect.com
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...
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.
thetransmitter.org
How Gregor Mendel’s pea plant experiments created modern genetics www.nationalgeographic.com/science/arti...
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.
nationalgeographic.com
"Large-scale discovery of neural enhancers for cis-regulation therapies" www.biorxiv.org/content/10.1...
biorxiv.org
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...
Camp RicStar
Explore the remarkable story of a one-of-a-kind music camp for people with disabilities.
pbs.org
"Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy" www.jneurosci.org/content/46/3...
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 ...
jneurosci.org
"Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies" www.cell.com/ajhg/fulltex...
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...
cell.com
"Biophysical simulation enables segmentation and nervous system atlas mapping for image first spatial omics" www.nature.com/articles/s41...
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
nature.com
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...
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...
link.springer.com
"Recent advances in the neurogenomics of autism spectrum disorder" www.sciencedirect.com/science/arti...
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…
sciencedirect.com
"δ-catenin haploinsufficiency is sufficient to alter behaviors and glutamatergic synapses in mice" www.ibroneuroscience.org/article/S030...
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...
ibroneuroscience.org
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
github.com
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
ASHG 2025 Data Discovery Exchange, hosted by Kids First and INCLUDE
YouTube video by Gabriella Miller Kids First Data Resource Center
youtube.com
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
GitHub - TNTurnerLab/HAT-FLEX: Flexible Trio DNV detection on existing VCFs.
Flexible Trio DNV detection on existing VCFs. Contribute to TNTurnerLab/HAT-FLEX development by creating an account on GitHub.
github.com
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/...
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.
journals.biologists.com
Wow, @github.com contributions look different today. No green. It looks like corn 🌽 Happy Halloween!
