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Precision genomic profiling in Gaucher disease: insights from atypical presentations.

BackgroundGaucher disease (GD) is characterized by significant phenotypic heterogeneity, even among patients with identical GBA1 genotypes, suggesting the role of genetic and/or epigenetic modifiers. The enzymatic defect and pathological accumulation of glucosylceramide (GlcCer) lead to chronic metabolic inflammation, providing ample opportunities for interaction with other biological pathways to influence disease expression. Herein, we developed a model of precision medicine in this prototype single-gene disorder.MethodsThis study leveraged a well-characterized, longitudinally followed cohort

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… This figure maps organ system findings in Gaucher disease that should trigger genomic review. … Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease . Hum. Genet. Genomics Adv. 6 ( 3 ), 100430 . 10.1016/j.xhgg.2025.100430 40195116 PMC12033986 Mistry P. K. Sirrs S. Chan A. Pritzker M. R. Duffy T. P. Grace M. E. ( 2002 ). …

The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia-A Commentary.

Prenatal genomic sequencing, which can provide a significantly increased diagnostic rate for fetal structural anomaly (FSA) compared with karyotype and microarray, is not available uniformly across Australia. PreGen, a 5-year translational research program, has identified significant barriers to implementation including access to funding, the availability of genomic testing, access to termination of pregnancy services and the availability of specialist genomic centres. A federal item number for prenatal genomic testing would increase equitable test availability and reduce delays to diagnoses b

Genomic localization and immune response of IgT in grass carp (Ctenopharyngodon idellus).

Teleost fish have three types of immunoglobulins (Ig): IgM, IgD, and IgT, of which IgT is unique to teleost fish. Though grass carp (Ctenopharyngodon idella) is one of the most farmed freshwater fish species worldwide, the genomic localization of the heavy chain gene of IgT (IGHT) and the composition and usage of the heavy chain variable region (VH) genes remain unknown. In this study, tissue expression pattern analysis revealed that grass carp IgT is constitutively expressed in various tissues, with higher expression levels in the spleen, kidney, and skin. After immersion immunization with Fl

[Ploidy and whole-genome survey of Corydalis yanhusuo and its related species].

Corydalis Rhizoma, recognized as one of the eight genuine medicinal materials in Zhejiang province, possesses the pharmacological functions of activating blood, regulating Qi movement, and relieving pain. The ploidy of Corydalis yanhusuo, the original plant of Corydalis Rhizoma, is complex, and the whole-genome maps of its closely related species have not yet been obtained, which restricts the research on the genome polyploidization and elite variety breeding of this group. This study employed chromosome preparation and karyotype analysis to reveal the chromosomal karyotypic characteristics of

Clonal divergence and genomic meltdown in prostatic pleomorphic giant cell adenocarcinoma.

BACKGROUND: Pleomorphic giant cell adenocarcinoma (PGCA) of the prostate is a rare, aggressive variant characterized by multinucleated giant cells, sarcomatoid features, and resistance to conventional therapies. Despite its recognition in the WHO 2016 guidelines, the molecular drivers and clinicopathological correlates of PGCA remain poorly characterized. This study presents the first integrative clinicogenomic profiling of PGCA, revealing a novel prognostic gene signature with direct implications for diagnosis and treatment. METHODS: We conducted comprehensive clinicopathological and genomic

The value of optical genomic mapping in a patient with azoospermia and a complex chromosomal rearrangement.

INTRODUCTION: Complex chromosomal rearrangements (CCRs) are frequently associated with infertility and have been described in the literature. Chromoanagenesis corresponds to a group of CCRs with a high number of chromosome breakpoints. These CCRs involving small structural variations can only be identified by using high-resolution genomic techniques. CASE REPORT: Here, we report on a male with azoospermia and a balanced CCR characterized using optical genome mapping. Although the CCR was initially thought to involve four chromosomes, the use of optical genome mapping (OGM) identified 11 break

Intragenic deletions from whole genome sequencing of 1054 suicide deaths.

Suicide is an urgent public health crisis that claimed over 48,000 lives in the US in 2022. The importance of genetics in suicide risk has b … ree large publicly-available control datasets (1000 Genomes, GnomAD, and Centers for Common Disease Genomics). Additional internal replication also required deletions to occur at least twice in WGS from an initial cohort of 670 suicide deaths then again in a second cohort of 384 suicide deaths. All results meeting these filters were manually validated. The …

Sociodemographic Factors Associated With Tissue-based Genomic Testing for Prostate Cancer.

OBJECTIVE: To evaluate the association of patient and area-level sociodemographic factors associated with the use of genomic classifiers (GC) testing for localized prostate cancer (PCa). Although GC can improve stratification of PCa risk and facilitate personalization of treatment decision making, the factors influencing a patient's use of GCs remains poorly characterized. METHODS: We conducted a retrospective study to identify patients who were diagnosed with localized PCa from 2012-2022 and received genomic testing. We compiled clinical, Area Deprivation Index (ADI), and health insurance in

Genomic and algorithm-based predictive risk assessment models for benzene exposure.

AIM: In this research, we leveraged bioinformatics and machine learning to pinpoint key risk genes associated with occupational benzene exposure and to construct genomic and algorithm-based predictive risk assessment models. SUBJECT AND METHODS: We sourced GSE9569 and GSE21862 microarray data from the Gene Expression Omnibus. Utilizing R software, we performed an initial screen for differentially expressed genes (DEGs), which was followed by the enrichment analyses to elucidate the affected functions and pathways. Subsequent steps included the application of three machine learning algorithms

Bordetella pertussis exhibits genomic diversity within patients and laboratory culture.

UNLABELLED: Over the past decade, genomic characterization of Bordetella pertussis isolates recovered from US pertussis patients has unveiled noteworthy structural gene order variations. Whole-genome sequencing (WGS) shows that although B. pertussis exhibits little gene sequence variation, genomes from clinical isolates frequently differ in gene order through rearrangement between insertion sequence elements. To better understand rates of genome rearrangement and single nucleotide polymorphism (SNP) in B. pertussis, intra-patient genomic diversity was examined. Five states submitted, on averag

Characteristics chloroplast genome of Yangxincai and correction of its Latin scientific name.

Yangxincai, a "highcalcium vegetable," is a hybrid of Phedimus aizoon L. and Phedimus kamtschaticus (Fisch., 1840), historically misidentified as P. aizoon L. owing to their morphological similarity. Uncertainty regarding its parentage has impeded official nomenclature and caused confusion in research. To clarify its maternal origin, we sequenced and assembled its complete chloroplast genome, 151,666 bp in length with a GC content of 37.73%, comprising LSC 83,128 bp, SSC 16,704 bp, and a pair of IRs (25,917 bp). A total of 128 genes were annotated,including 84 proteincoding, 36 tRNA, and 8 rRN

Secrets of the Goo: The genome assembly of the Pacific banana slug, Ariolimax columbianus.

The Pacific banana slug, Ariolimax columbianus, is endemic to the forests of the Pacific Northern West. Found throughout the coastal foothills and mountains of California, the hermaphroditic molluscs Ariolimax spp. are niche-constrained, hyper-localized, and phenotypically diverse. The evolutionary history, recent population history and environmental conditions leading to their phenotypic and genetic variation are not understood. To facilitate such research, we present the first high-quality de novo genome assembly of A. columbianus as part of the California Conservation Genomics Project. Paci…

Whole-Genome Sequencing Reveals the Progress of Genetic Breeding in Eriocheir sinensis.

Eriocheir sinensis is an important and popular crustacean species in China, producing huge economic benefits. Large individuals of E. sinensis are preferred due to market demand. The long-term goal of our research group is to produce a new variety of E. sinensis with better growth performance and stronger abilities to resist environmental changes through mass selection. The present study aimed to evaluate the progress of the genetic breeding of E. sinensis by analyzing the genetic diversity and genetic distance between the basic breeding population (pooled population of Suqian and Yixing, G0)

Genome-wide identification and expression analysis of the Sox gene family in bivalves.

Since the discovery of the Sox gene family in 1990, research on its distribution, classification, characterization, and function across various species has been significantly deepened. However, the Sox gene family has not yet been systematically and comprehensively analyzed in bivalves. In this study, 254 Sox genes were identified in 51 bivalves (covering 20 orders and 37 families). The Sox gene numbers ranged from 1 and 10 in most bivalves but no Sox gene was identified in the transcriptomes of Poromya illevis (Poromyoidea), Thracia phaseolina (Thracioidea), Solen vaginoides (Solenoidea), Lam

Sex chromosome identification and genome curation from a single individual with SCINKD.

In most animal species, the sex determining pathway is typically initiated by the presence/absence of a primary genetic cue at a critical point during development. This primary genetic cue is often located on a single locus-referred to as sex chromosomes-and can be limited to females (in a ZZ/ZW system) or males (in an XX/XY system). One trademark of sex chromosomes is a restriction or cessation of recombination surrounding the sex-limited region (to prevent its inheritance in the homogametic sex). This may lead to-through a variety of mechanisms-higher amounts of genetic divergence within thi

Advances in the Evolutionary Mechanisms and Genomic Studies of Sexual Differentiation in Lauraceae Plants.

The Lauraceae family, a keystone group in subtropical evergreen broad-leaved forest ecosystems, exhibits exceptional diversity in sexual sys … ure studies should integrate single-cell omics, epigenetic profiling, and cross-species comparative genomics to elucidate spatiotemporal dynamics and evolutionary drivers of sexual differentiation. These efforts will advance genetic improvement and ecological restoration strategies. This review provides a systematic framework for advancing plant sexual evo …

ATM and p53 in aging and cancer: a double-edged sword in genomic integrity.

Maintaining genomic stability is essential for detecting DNA damage and activating appropriate responses such as repair, apoptosis, or senescence, primarily mediated by the ATM-p53 axis. ATM is the main sensor of double-strand breaks, and once activated, it will either promote the repair of damaged DNA or eliminate the damaged cells through apoptosis. ATM and p53 mutations upset this equilibrium to cause genomic instability, therapy resistance, and tumor progression in the context of cancer. Oncogene-induced senescence is bypassed by ATM inactivation, which allows cells to progress to become t

Genome sequencing is critical for forecasting outcomes following congenital cardiac surgery.

While exome and whole genome sequencing have transformed medicine by elucidating the genetic underpinnings of both rare and common complex disorders, its utility to predict clinical outcomes remains understudied. Here, we use artificial intelligence (AI) technologies to explore the predictive value of whole exome sequencing in forecasting clinical outcomes following surgery for congenital heart defects (CHD). We report results for a prospective observational cohort study of 2,253 CHD patients from the Pediatric Cardiac Genomics Consortium with a broad range of complex heart defects, pre- and p…

Genomic evidence for males of exceptional reproductive output (ERO) in apes and humans.

It is widely suspected that a small percentage of males have exceptional reproductive output (ERO) but progeny numbers of males are rarely measurable, even in humans. If we define the variance ratio of reproductive-output in males and females as α' = VM /VF , the ERO hypothesis would predict α' ≫ 1. Since autosomal, X, and, Y chromosomes are found in males 1/2, 1/3, and 100% of the time, their DNA diversities can inform about α'. For example, autosomal and Y-linked diversities are governed, respectively, by (VM  + VF )/2 and VM . When comparing the chromosomal diversities, α' appears to be nea

Cefiderocol Resistance in Pseudomonas aeruginosa ST175: A Case Report with Genomic Analysis.

BACKGROUND: Cefiderocol, a novel siderophore cephalosporin, has shown promising activity against multidrug-resistant (MDR) Gram-negative pathogens, including metallo-β-lactamase (MBL) producers. However, emerging reports suggest rapid resistance development under selective pressure, particularly in epidemic Pseudomonas aeruginosa lineages. CASE PRESENTATION: We describe a 50-year-old man with a history of aortic dissection who developed ventilator-associated pneumonia due to P. aeruginosa ST175 carrying an IMP-type carbapenemase. Initial treatment with ceftazidime/avibactam plus aztreonam was