@tycheleturner.bsky.social
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📥 216
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❄️ 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
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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.
https://github.com/tycheleturner/snow/
20 days ago
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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
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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
https://zenodo.org/records/18842151
about 1 month ago
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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
about 1 month ago
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www.nikonsmallworld.com/galleries/20...
#cochlea
#ear
#microscope
about 2 months ago
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"Mutations in the γ-Actin Gene (ACTG1) Are Associated with Dominant Progressive Deafness (DFNA20/26)"
www.cell.com/ajhg/fulltex...
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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...
https://www.cell.com/ajhg/fulltext/S0002-9297%2807%2961971-5
about 2 months ago
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"Sex Limited Inheritance in Drosophila"
#classic
#genetics
www.jstor.org/stable/1635471
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Sex Limited Inheritance in Drosophila on JSTOR
T. H. Morgan, Sex Limited Inheritance in Drosophila, Science, New Series, Vol. 32, No. 812 (Jul. 22, 1910), pp. 120-122
https://www.jstor.org/stable/1635471
about 2 months ago
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"A novel homecage operant paradigm reveals circadian and behavioral dynamics of social motivation in mice"
www.biorxiv.org/content/10.1...
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https://www.biorxiv.org/content/10.1101/2025.08.21.671364v2
about 2 months ago
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"ModelArchive: A Deposition Database for Computational Macromolecular Structural Models"
www.sciencedirect.com/science/arti...
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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…
https://www.sciencedirect.com/science/article/pii/S0022283625000622
about 2 months ago
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reposted by
The Transmitter
about 2 months ago
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...
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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.
https://www.thetransmitter.org/spectrum/sex-bias-in-autism-drops-as-age-at-diagnosis-rises/?utm_source=bluesky&utm_medium=org-social&utm_campaign=20260217-news-sp-sex-bias-in-autism-drop-age-diagnosis
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How Gregor Mendel’s pea plant experiments created modern genetics
www.nationalgeographic.com/science/arti...
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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.
https://www.nationalgeographic.com/science/article/gregor-mendel-genetics
about 2 months ago
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"Large-scale discovery of neural enhancers for cis-regulation therapies"
www.biorxiv.org/content/10.1...
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https://www.biorxiv.org/content/10.1101/2025.11.04.686611v1
about 2 months ago
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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...
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Camp RicStar
Explore the remarkable story of a one-of-a-kind music camp for people with disabilities.
https://www.pbs.org/show/camp-ricstar/
about 2 months ago
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"Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy"
www.jneurosci.org/content/46/3...
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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 ...
https://www.jneurosci.org/content/46/3/e0947252025
about 2 months ago
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"Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies"
www.cell.com/ajhg/fulltex...
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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...
https://www.cell.com/ajhg/fulltext/S0002-9297%2825%2900478-1
about 2 months ago
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"Biophysical simulation enables segmentation and nervous system atlas mapping for image first spatial omics"
www.nature.com/articles/s41...
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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
https://www.nature.com/articles/s41540-025-00627-6
about 2 months ago
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reposted by
bioRxiv Neuroscience
about 2 months ago
Transient activation of potent progenitor cells is required for spinal cord regeneration
https://www.biorxiv.org/content/10.64898/2026.02.04.703854v1
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"Unlocking Ethiopia’s genomic landscape and its global significance: a call for inclusive genomics research"
link.springer.com/article/10.1...
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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...
https://link.springer.com/article/10.1186/s40246-025-00878-8
about 2 months ago
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"Recent advances in the neurogenomics of autism spectrum disorder"
www.sciencedirect.com/science/arti...
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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…
https://www.sciencedirect.com/science/article/pii/S0959437X25001236
2 months ago
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"δ-catenin haploinsufficiency is sufficient to alter behaviors and glutamatergic synapses in mice"
www.ibroneuroscience.org/article/S030...
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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...
https://www.ibroneuroscience.org/article/S0306-4522(26)00082-5/fulltext
2 months ago
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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
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https://github.com/tycheleturner/plot-protein/blob/master/gallery/Gallery.md
4 months ago
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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
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ASHG 2025 Data Discovery Exchange, hosted by Kids First and INCLUDE
YouTube video by Gabriella Miller Kids First Data Resource Center
https://youtube.com/watch?v=g67zslSgEFc
5 months ago
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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
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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.
https://github.com/TNTurnerLab/HAT-FLEX
5 months ago
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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/...
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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.
https://journals.biologists.com/bio/article/14/11/bio062070/369711/Generation-and-characterization-of-a-knockout
5 months ago
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Wow,
@github.com
contributions look different today. No green. It looks like corn 🌽 Happy Halloween!
5 months ago
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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
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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 ...
https://link.springer.com/article/10.1186/s13073-025-01563-0
5 months ago
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❤️
link.springer.com/10.1186/s130...
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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 ...
https://link.springer.com/10.1186/s13073-025-01563-0
6 months ago
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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
6 months ago
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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
7 months ago
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🐭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 🐭
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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...
https://doi.org/10.1101/2025.01.09.631762
7 months ago
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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.
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7 months ago
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Here’s to all my colleagues rocking bowties! Happy
#BowtieDay
! Shoutout to Sandy Boynton for the image.
#Style
#WorkLife
7 months ago
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reposted by
Megan Dennis
9 months ago
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...
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https://authors.elsevier.com/a/1lTQtL7PXuFSV
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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
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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…
https://sciencedirect.com/science/article/pii/S0022283625003791?via%3Dihub
9 months ago
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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
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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.…
https://turnerlab.wustl.edu/employment/
11 months ago
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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
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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...
https://www.credly.com/badges/7ac68e3c-de73-4ba1-b23c-4ac09dfcd433/twitter
12 months ago
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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
12 months ago
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reposted by
GitHub
about 1 year ago
⭐ 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/...
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Happened upon this interesting website
42basepairs.com/browse
. Came across it today when looking at some publicly available whole-genome sequencing data.
#genetics
#genomics
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Browse - 42basepairs
https://42basepairs.com/browse
about 1 year ago
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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
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Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes
Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low resolution strategies (i.e., karyotypes, chromosome microarrays). We present the first large-scale whole-...
https://www.medrxiv.org/content/10.1101/2025.03.28.25324850v1
about 1 year ago
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reposted by
about 1 year ago
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
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Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer - PubMed
Prior studies examining genomic variants suggest that some proteins contribute to both neurodevelopmental disorders (NDDs) and cancer. While there are several potential etiologies, here, we hypothesiz...
https://pubmed.ncbi.nlm.nih.gov/40073865/
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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.
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Vega genomes datasets - PacBio
Explore Vega genomes demo datasets on Vega benchtop system
https://www.pacb.com/vega-genomes-datasets/
about 1 year ago
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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
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Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer
Proteins implicated in neurodevelopmental disorders (NDDs) and cancer have been identified from analyses of genomic variation. Some of these proteins occur in both phenotypes, but the reason for this ...
https://www.cell.com/cell-genomics/fulltext/S2666-979X%2825%2900063-1
about 1 year ago
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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
about 1 year ago
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about 1 year ago
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Check out our new collaborative preprint “Generation and Characterization of a Knockout Mouse of an Enhancer of EBF3” on bioRxiv
#genetics
#ebf3
#mouse
#enhancer
#noncoding
#genomics
www.biorxiv.org/content/10.1...
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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...
https://www.biorxiv.org/content/10.1101/2025.01.09.631762v1
about 1 year ago
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reposted by
over 1 year ago
www.youtube.com/watch?v=c8Bz...
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IDDRC Introduction by Co-directors Joseph Dougherty, PhD and Christina A. Gurnett, MD, PhD
YouTube video by WashU IDDRC
https://www.youtube.com/watch?v=c8Bz56-_W8w&feature=youtu.be
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I am looking for serious applicants who are interested in doing a postdoc in Human
#Genetics
in my lab. Looking for wet and/or dry lab postdocs. If you are interested, DM me.
over 1 year ago
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Job posted for a research technician in my lab. If you are interested, please DM me.
#genomics
#genetics
We just got some new lab toys!
over 1 year ago
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7 years & keep enhancing El genoma pequeño (EGP). Updates have expanded capabilities to include mitochondrial genome copy number estimates, building upon original tools for haplogroup & heteroplasmy analyses.
github.com/tycheleturne...
#mitochondria
#genomics
#genetics
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GitHub - tycheleturner/ElGenomaPequeno: El genoma pequeño - analysis workflow for "the little genome"
El genoma pequeño - analysis workflow for "the little genome" - tycheleturner/ElGenomaPequeno
https://github.com/tycheleturner/ElGenomaPequeno
about 2 years ago
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