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Biology subjects

Hall, J. R.

Publications and source records attributed to Hall, J. R..

2 recordsLinked to original sources

Epidermal microstructure and tactile sensitivity in the glabrous skin of hands and feet

Glabrous skin on the human palms and soles is specialised for mechanical interaction and is characterised by papillary ridges, an absence of hair follicles, and a thick stratum corneum. While gross morphological differences, such as the increased thickness of the plantar stratum corneum, are well-documented, the fine-scale structural features associated with individual ridges and whether they help explain differences in tactile perception remain poorly understood. Here, we employed optical coherence tomography, automated image segmentation, and 3D reconstruction to generate high-resolution models of the stratum corneum and viable epidermis across six sites on the hand and foot for 27 participants. Our morphological analysis revealed that while the stratum corneum was thicker on the foot sole than the hand, the thickness of the viable epidermis remained remarkably consistent across all sites. Furthermore, papillary ridge width increased in a distal-to-proximal fashion and was larger on the foot. We also found that internal ridge architecture was considerably more pronounced than the topography observable on the skin surface. Correlating these structural parameters with psychophysical measures, specifically absolute force and two-point discrimination thresholds, demonstrated distinct drivers for tactile sensitivity. Force thresholds were primarily governed by a combination of skin thickness and innervation density, and additionally on the foot by papillary ridge width and internal ridge depth. In contrast, spatial acuity was best predicted by innervation and papillary ridge width. These findings provide a precise quantification of glabrous skin morphology and offer new insights into the process of mechanotransduction by highlighting how tissue architecture might contribute to human tactile perception.

neuroscience↗

Summix: A method for detecting and adjusting for population structure in genetic summary data

Publicly available genetic summary data have high utility in research and the clinic including prioritizing putative causal variants, polygenic scoring, and leveraging common controls. However, summarizing individual-level data can mask population structure resulting in confounding, reduced power, and incorrect prioritization of putative causal variants. This limits the utility of publicly available data, especially for understudied or admixed populations where additional research and resources are most needed. While several methods exist to estimate ancestry in individual-level data, methods to estimate ancestry proportions in summary data are lacking. Here, we present Summix, a method to efficiently deconvolute ancestry and provide ancestry-adjusted allele frequencies from summary data. Using continental reference ancestry, African (AFR), Non-Finnish European (EUR), East Asian (EAS), Indigenous American (IAM), South Asian (SAS), we obtain accurate and precise estimates (within 0.1%) for all simulation scenarios. We apply Summix to gnomAD v2.1 exome and genome groups and subgroups finding heterogeneous continental ancestry for several groups including African/African American ([~]84% AFR, [~]14% EUR) and American/Latinx ([~]4% AFR, [~]5% EAS, [~]43% EUR, [~]46% IAM). Compared to the unadjusted gnomAD AFs, Summixs ancestry-adjusted AFs more closely match respective African and Latinx reference samples. Even on modern, dense panels of summary statistics, Summix yields results in seconds allowing for estimation of confidence intervals via block bootstrap. Given an accompanying R package, Summix increases the utility and equity of public genetic resources, empowering novel research opportunities.

genetics↗