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Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework
Newborn screening (NBS) programmes are highly successful, trusted, public health interventions. Genomic sequencing offers the opportunity to increase...
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Limitations in next-generation sequencing-based genoty** of breast cancer polygenic risk score loci
Considering polygenic risk scores (PRSs) in individual risk prediction is increasingly implemented in genetic testing for hereditary breast cancer...
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Comprehensive analysis of the expression, prognostic, and immune infiltration for COL4s in stomach adenocarcinoma
BackgroundCollagen (COL) genes, play a key role in tumor invasion and metastasis, are involved in tumor extracellular matrix (ECM)-receptor...
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Predictive role of ITPA genetic variants in thiopurine-related myelotoxicity in Crohn’s disease patients
Thiopurines, an effective therapy for Crohn’s disease (CD), often lead to adverse events (AEs). Gene polymorphisms affecting thiopurine metabolism...
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Molecular genomic and epigenomic characteristics related to aspirin and clopidogrel resistance
BackgroundMediators, genomic and epigenomic characteristics involving in metabolism of arachidonic acid by cyclooxygenase (COX) and lipoxygenase...
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A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures
Glycosylphosphatidylinositol (GPI)-anchored proteins are located at the cell surface by a covalent attachment between protein and GPI embedded in the...
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Expression profile of long noncoding RNAs and comprehensive analysis of lncRNA-cisTF-DGE regulation in condyloma acuminatum
ObjectiveTo identify differentially expressed long noncoding RNAs (lncRNAs) in condyloma acuminatum (CA) and to explore their probable regulatory...
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“Unnatural resources?”: parallels and distinctions between the Newfoundland Genome and traditional resource sectors
Newfoundland and Labrador (NL) has a long history of resource development, exploitation, and frequent mismanagement. Even before joining the Canadian...
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Gut microbiota-mediated activation of GSDMD ignites colorectal tumorigenesis
Activation of Gasdermin D (GSDMD) results in its cleavage, oligomerization, and subsequent formation of plasma membrane pores, leading to a form of...
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Structure and transcription of integrated HPV DNA in vulvar carcinomas
HPV infections are associated with a fraction of vulvar cancers. Through hybridization capture and DNA sequencing, HPV DNA was detected in five of...
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The prognostic significance of ubiquitination-related genes in multiple myeloma by bioinformatics analysis
BackgroundImmunoregulatory drugs regulate the ubiquitin-proteasome system, which is the main treatment for multiple myeloma (MM) at present. In this...
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Association of disease severity and genetic variation during primary Respiratory Syncytial Virus infections
BackgroundRespiratory Syncytial Virus (RSV) disease in young children ranges from mild cold symptoms to severe symptoms that require hospitalization...
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Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study
Whole Genome Sequencing (WGS) in newborn screening is ethically complex. Parents will provide proxy consent for initial participation and...
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Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing
Cardiac channelopathies are a group of heritable disorders that affect the heart’s electrical activity due to genetic variations present in genes...
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Nimodipine-associated standard dose reductions and neurologic outcomes after aneurysmal subarachnoid hemorrhage: the era of pharmacogenomics
Nimodipine, an L-type cerebroselective calcium channel antagonist, is the only drug approved by the US Food and Drug Administration for the...
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Identification of miRNA expression profile in middle ear cholesteatoma using small RNA-sequencing
BackgroundThe present study aims to identify the differential miRNA expression profile in middle ear cholesteatoma and explore their potential roles...
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Evidence for a relationship between genetic polymorphisms of the L-DOPA transporter LAT2/4F2hc and risk of hypertension in the context of chronic kidney disease
BackgroundChronic kidney disease (CKD) and hypertension are chronic diseases affecting a large portion of the population frequently coexistent and...
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Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population
Variants in voltage-gated sodium channel (VGSC) genes are implicated in seizures, epilepsy, and neurodevelopmental disorders, constituting a...
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SLC40A1-related hemochromatosis associated with a p.Y333H mutation in mainland China: a pedigree report and literature review
BackgroundHaemochromatosis is a genetic disease characterized by the excessive deposition of iron in various tissues and organs, eventually results...
