Preprints

Short tandem repeats (STRs) are highly abundant in the human genome and their age-related somatic instability is emerging as a pivotal pathomechanism in repeat expansion disorders. Nevertheless, currently no analysis tool exists for genome-wide profiling of STR somatic instability. [...]

Although genome-wide association studies (GWAS) have uncovered many genetic variants linked to brain structure, much of its heritability remains unexplained. Short tandem repeats (STRs), which are rarely considered in GWAS, may contribute to this “missing heritability”. [...]

In many biomedical segmentation tasks, the preservation of elongated structure continuity and length is more important than voxel-wise accuracy. We propose two novel loss functions, Negative Centerline Loss and Simplified Topology Loss, that, applied to Convolutional Neural Networks (CNNs), help preserve connectivity of output instances. [...]

Purpose: While vessel atlases, i.e. building one global mean representative vascular model, and vessel patterns, i.e. [...]

Genetically encoded calcium (Ca2+) indicators (GECIs) are widely used for imaging neuronal activity, yet current limitations of existing red fluorescent GECIs have constrained their applicability. The inherently dim fluorescence and low signal-to-noise ratio of red-shifted GECIs have posed significant challenges. [...]

Retrotransposable elements (RTEs) have been implicated in the pathogenesis of several age-associated diseases. Although model systems indicate that age- and sex-dependent loss of heterochromatin increases RTE expression, data from large human studies are lacking. [...]

Neural circuits undergo experience-dependent plasticity to form long-lasting memories. Excitatory projection neurons are considered to be the primary neuronal substrate for memory acquisition and storage. [...]

The axon initial segment (AIS) constitutes not only the site of action potential initiation, but also a hub for activity-dependent modulation of output generation. Recent studies shedding light on AIS function used predominantly post hoc approaches since no robust murine in vivo live reporters exist. [...]

Olfactory dysfunction is among the earliest signs of many age-related neurodegenerative diseases and has been associated with increased mortality in older adults; however, its genetic basis remains largely unknown.To identify the genetic loci associated with olfactory dysfunction in the general population.This genome-wide association study meta-analysis (GWMA) included participants of European ancestry (N = 22,730) enrolled in four different large population-based studies, followed by a multi-ancestry GWMA including participants of African ancestry (N = 1,030). The data analysis was performed from March 2023 through June 2024.Genome-wide single nucleotide polymorphisms.Olfactory dysfunction was the outcome and assessed using a 12-item smell identification test.GWMA revealed a novel genome-wide significant locus (tagged by rs11228623 at 11q12) associated with olfactory dysfunction. [...]

Objective: To assess whether severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection is associated with changes in plasma levels of neurofilament light chain (NfL), an extremely sensitive marker of neuroaxonal damage, in community-dwelling individuals.Setting: This study was embedded within the Rhineland Study, an ongoing community-based cohort study in Bonn, GermanyDesign: Cross-sectional nested case-control study.Participants: Participants were selected based on results from a previously conducted seroprevalence survey within the framework of the Rhineland Study. Cases were defined as those individuals who had had two positive confirmatory test results, including a recombinant spike-based immunofluorescence assay and a plaque reduction neutralization test (N=21). [...]