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Beyond carrier frequency: a preliminary multicenter study of simultaneous couple-based comprehensive carrier screening for common and rare genetic disorders
BACKGROUND: Currently, the American College of Medical Genetics and Genomics (ACMG) carrier screening (CS) guidelines do not recommend routinely screening for conditions with carrier frequencies ≤ 1:200. Advances in DNA sequencing and declining costs, alongside …
Read PDFClimate-Induced Genomic Selection: Genetic Structure Variation of <i>Cornus kousa</i> subsp. <i>chinensis</i> and Its Adaptive Reaction to Future Climate Change
Global climate change exerts a far-reaching influence on the geographical distribution, phenological patterns, and genetic diversity of plants, presenting a grave challenge to the survival and evolution of species. Owing to its robust ecological adaptability, …
Read PDFResolution of a human chromosomal mystery: Evolutionary complexity revealed
The human complement of chromosomes differs from our closest primate relatives by virtue of a unique chromosome fusion event. In this issue of Cell Genomics, Yang et al. provide the first detailed analysis of the …
Read PDFPseudogenization of the chaperonin system in '<i>Candidatus</i> Phytoplasma pruni' revealed by genome sequencing and comparative genomics
GroE is a chaperonin folding system consisting of GroEL (Cpn60, a 60 kDa chaperonin), and the smaller co-chaperonin GroES (Cpn10). Many 'client' proteins require GroE to fold properly, including several that are essential for cell …
Read PDFThe Brazilian Population Tumor Atlas Project: addressing representation in cancer genomics in Brazil
The underrepresentation of Brazil and other Latin American nations in global genomic research is a consequence of multifaceted challenges. Persistent underfunding and infrastructure limitations have hampered the development and implementation of large-scale genomic studies in …
Read PDFDraft genome sequence data of <i>Colletotrichum camelliae</i> isolated from <i>Camellia japonica</i> in the United States
<i>Colletotrichum camelliae</i> Massee, a member of <i>Colletotrichum gloeosporioides</i> species complex (CGSC), is an economically important fungal pathogen that causes significant damage to <i>Camellia sinensis</i> (tea) and other C<i>amellia</i> species that include ornamental crops. Although the …
Read PDFRHEBL1 expression is activated by the Oct4-Sox2 complex in oral squamous cell carcinoma
RHEBL1 (RHEB2), a member of the Ras superfamily, has established roles in tumor-promoting signaling pathways including mTOR activation and NF-κB transcription; however, its specific role in oral squamous cell carcinoma (OSCC) and its regulation by …
Read PDFEvaluation of the Integration of Genetics and Genomics Into Nursing Practice
<h4>Purpose</h4>Assess US registered nurse genomic competency.<h4>Design</h4>Administered the Genetics and Genomics Nursing Practice Survey (GGNPS).<h4>Methods</h4>GGNPS assesses genomic knowledge, skills, attitudes, confidence, and utilization in nursing practice. Distributed by the American Nurses Association via email and online …
Read PDFThe draft genome sequence of the ascomycete fungus <i>Colletotrichum acutatum</i> obtained from strawberry roots
Here we report the genome sequence of the ascomycete pathogenic fungus <i>Colletotrichum acutatum</i> isolate #83 obtained from the rootstock of strawberries in Santa Maria, CA.
Read PDFWhole-genome sequencing of MDR K. pneumoniae circulating in Moroccan river ecosystems: a comprehensive genomic analysis of environmental isolates
<h4>Background</h4>Klebsiella pneumoniae is a major opportunistic pathogen and a recognized contributor to the global burden of antimicrobial resistance (AMR). Although traditionally associated with healthcare settings, it is increasingly detected in environmental compartments influenced by anthropogenic …
Read PDFLight-based footprinting of a eukaryotic genome
Identification of protein-bound DNA sites is key to understanding genome function and regulation, but studying protein-DNA interactions in living, unperturbed cells remains challenging. UV footprinting has been used to study such interactions in vivo by …
Read PDFFederated, governed, and interoperable? The emerging architecture of public human genomic data infrastructures: a European perspective
Public infrastructures for human genomic data are increasingly incorporating federated approaches alongside centralized and cloud-native models, yet operational federation remains constrained by unsolved challenges at the legal, semantic, and technical layers. We describe the current …
Read PDFLSTM-attention-guided graph neural networks for integrated genotype-Environment modeling in maize yield prediction
This paper presents a deep-learning framework that combines an LSTM, a graph neural network (GNN), and transformer-style attention to model genotype-environment (G×E) effects for maize yield prediction. Weather data for a growing season is summarized …
Read PDFWhen algorithms testify: artificial intelligence-driven DNA analysis, evidentiary standards, and criminal justice reform
Forensic DNA analysis has already influenced criminal justice, and serves as a powerful tool for both conviction and exoneration. Despite its scientific foundations and wide application, DNA evidence is vulnerable to interpretive errors, methodological limitations, …
Read PDFVLMs struggle to extract definitions of structural segments from MSA images: toward the design of a human-in-the-loop annotation pipeline for the PDB-Descriptome project
We investigate the ability of vision-language models (VLMs) to extract structural region definitions from rasterized multiple sequence alignment (MSA) images, as part of the PDB-Descriptome project. Using synthetic MSAs with annotated structural biological entities (SBEs) …
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