Neanderthal adaptive introgression shaped enhancer region diversity without linking to lactase persistence in East Asian populations.

Positive selection at the 2q21.3 enhancer region for lactase gene () expression in Europeans and Africans has long been attributed to selection for lactase persistence (LP), the capacity of adults to digest lactose in milk, presumably because of the benefits associated with milk consumption. While considered a classic example of gene-culture coevolution, recently doubts have been raised about the link between selection at 2q21.

Ancestral origins and post-admixture adaptive evolution of highland Tajiks.

It remains debatable how many genes and how various the mechanisms are behind human adaptation to extreme environments, such as high altitudes. Despite extensive studies on Tibetans, Andeans and Ethiopians, new insights are expected to be provided with careful analysis of underrepresented highlanders living in a different geographical region, such as the Tajiks, who reside on the Pamir Plateau at an average altitude exceeding 4000 meters. Moreover, genetic admixture, as we observed in the current whole-genome deep-sequencing study of Xinjiang Tajiks (XJT), offers a unique opportunity to explore how admixture may facilitate adaptation to high-altitude environments.

Expression quantitative trait loci (eQTL): From population genetics to precision medicine.

Evidence has shown that differential transcriptomic profiles among human populations from diverse ancestries, supporting the role of genetic architecture in regulating gene expression alongside environmental stimuli. Genetic variants that regulate gene expression, known as expression quantitative trait loci (eQTL), are primarily shaped by human migration history and evolutionary forces, likewise, regulation of gene expression in principle could have been influenced by these events. Therefore, a comprehensive understanding of how human evolution impacts eQTL offers important insights into how phenotypic diversity is shaped.

Injectable Arctium lappa polysaccharide-based composite hydrogel enhances diabetic wound healing.

The slow healing of diabetic wounds remains a significant challenge. However, existing treatments often prove ineffective due to the complexity of diabetic wounds. The purpose of this study was to develop an injectable hydrogel loaded with natural polysaccharides to promote diabetic wound healing.

SeqBMC: Single-cell data processing using iterative block matrix completion algorithm based on matrix factorisation.

With the development of high-throughput sequencing technology, the analysis of single-cell RNA sequencing data has become the focus of current research. Matrix analysis and processing of downstream gene expression after preprocessing is a hot topic for researchers. This paper proposed an iterative block matrix completion algorithm, called SeqBMC, based on matrix factorisation.

Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility.

Genomic structural variants (SVs) are a major source of genetic diversity in humans. Here, through long-read sequencing of 945 Han Chinese genomes, we identify 111,288 SVs, including 24.56% unreported variants, many with predicted functional importance.

Protocol for reconstructing ancestral genomes from present-day samples by applying local ancestry inference.

The genome of the most recent common ancestor is generally not available but can greatly facilitate the inference of demographic history and the detection of local adaptations. Here, we present a protocol for applying local ancestry inference in present-day samples to reconstruct ancestral genomes. We describe steps for estimating haplotypes, inferring local ancestry, and assembling ancestral haplotypes.

Impact of rare non-coding variants on human diseases through alternative polyadenylation outliers.

Although rare non-coding variants (RVs) play crucial roles in complex traits and diseases, understanding their mechanisms and identifying disease-associated RVs continue to be major challenges. Here we constructed a comprehensive atlas of alternative polyadenylation (APA) outliers (aOutliers), including 1334 3' UTR and 200 intronic aOutliers, from 15,201 samples across 49 human tissues. These aOutliers exhibit unique characteristics from transcription or splicing outliers, with a pronounced RV enrichment.

Population genomics advances in frontier ethnic minorities in China.

China, with its large geographic span, possesses rich genetic diversity across vast frontier regions in addition to the Han Chinese majority. Importantly, demographic events and various natural and cultural environments in Chinese frontier regions have shaped the genomic diversity of ethnic minorities via local adaptations. Thus, insights into the genetic diversity and adaptive evolution of these under-represented ethnic groups are crucial for understanding evolutionary scenarios and biomedical implications in East Asian populations.

AncestryPainter 2.0: Visualizing Ancestry Composition and Admixture History Graph.

The earlier version of AncestryPainter is a Perl program that displays the ancestry composition of numerous individuals using a rounded graph. Motivated by the requests of users in practical applications, we updated AncestryPainter to version 2.0 by coding in an R package and improving the layout, providing more options and compatible statistical functions for graphing.

MGA loss-of-function variants cause premature ovarian insufficiency.

Although premature ovarian insufficiency (POI), a common cause of female infertility and subfertility, has a well-established hereditary component, the genetic factors currently implicated in POI account for only a limited proportion of cases. Here, using an exome-wide, gene-based case-control analysis in a discovery cohort comprising 1,027 POI cases and 2,733 ethnically matched women controls from China, we found that heterozygous loss-of-function (LoF) variants of MAX dimerization protein (MGA) were significantly enriched in the discovery cohort, accounting for 2.6% of POI cases, while no MGA LoF variants were found in the matched control females.

Multiple-Wave Admixture and Adaptive Evolution of the Pamirian Wakhi People.

While whole-genome sequencing has been applied extensively to investigate the genetic diversity of global populations, ethnic minority groups in Pakistan are generally underrepresented. In particular, little is known about the genetic origin and highland adaptation of the Pamirian Wakhi people. According to Chinese historical records, the geographical location and language usage of Wakhi may be closely related to Xinjiang Tajiks.

Optimizing MobileNetV2 for improved accuracy in early gastric cancer detection based on dynamic pelican optimizer.

This paper presents an innovative framework for the automated diagnosis of gastric cancer using artificial intelligence. The proposed approach utilizes a customized deep learning model called MobileNetV2, which is optimized using a Dynamic variant of the Pelican Optimization Algorithm (DPOA). By combining these advanced techniques, it is feasible to achieve highly accurate results when applied to a dataset of endoscopic gastric images.

Review and new insights into the catalytic structural domains of the Fe(ll) and 2-Oxoglutarate families.

Histone lysine demethylase (KDM), AlkB homolog (ALKBH), and Ten-Eleven Translocation (TET) proteins are members of the 2-Oxoglutarate (2OG) and ferrous iron-dependent oxygenases, each of which harbors a catalytic domain centered on a double-stranded β-helix whose topology restricts the regions directly involved in substrate binding. However, they have different catalytic functions, and the deeply structural biological reasons are not yet clear. In this review, the catalytic domain features of the three protein families are summarized from both sequence and structural perspectives.

Two-dimensional layered material photodetectors: what could be the upcoming downstream applications beyond prototype devices?

With distinctive advantages spanning excellent flexibility, rich physical properties, strong electrostatic tunability, dangling-bond-free surface, and ease of integration, 2D layered materials (2DLMs) have demonstrated tremendous potential for photodetection. However, to date, most of the research enthusiasm has been merely focused on developing novel prototype devices. In the past few years, researchers have also been devoted to developing various downstream applications based on 2DLM photodetectors to contribute to promoting them from fundamental research to practical commercialization, and extensive accomplishments have been realized.

Analysis of sleep quality, disease uncertainty, and psychological tolerance in patients undergoing chemotherapy for digestive tract malignancies.

Background: Colorectal cancer is the second leading cause of cancer-related deaths among digestive tract malignancies, following gastric cancer. Sleep is of great significance for maintaining human health. The incidence of sleep disorders in patients with cancer is approximately twice that observed in the general population.

Adaptive Evolution of Two Distinct Adaptive Haplotypes of Neanderthal Origin at the Immunoglobulin Heavy-chain Locus in East Asian and European Populations.

Immunoglobulins (Igs) have a crucial role in humoral immunity. Two recent studies have reported a high-frequency Neanderthal-introgressed haplotype throughout Eurasia and a high-frequency Neanderthal-introgressed haplotype specific to southern East Asia at the immunoglobulin heavy-chain (IGH) gene locus on chromosome 14q32.33.