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Location ST. LOUIS, MO 63110 Position Summary The Postdoctoral Researcher will support a multidisciplinary research program focused on understanding the genomic and molecular mechanisms underlying 9p-...

What Comes After Precision Genomics? Genomic Configurations A Perspective   Tychele N. Turner, Ph.D.Department of GeneticsWashington University School of MedicineCorrespondence: tychele@wustl.edu

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...

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...

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...

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

White Paper for CNPI TNTurnerLab, Washington University School of Medicine

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...

T. H. Morgan, Sex Limited Inheritance in Drosophila, Science, New Series, Vol. 32, No. 812 (Jul. 22, 1910), pp. 120-122

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

The disparity begins to level out after age 10, raising questions about why so many autistic girls go undiagnosed earlier in childhood.

Mendel’s monastery garden experiments went largely unnoticed during his life, but their implications would ripple through science decades later.

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

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 ...

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...

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

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...

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

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...

YouTube video by Gabriella Miller Kids First Data Resource Center

Flexible Trio DNV detection on existing VCFs. Contribute to TNTurnerLab/HAT-FLEX development by creating an account on GitHub.

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.

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 ...

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 ...