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npj Genomic Medicine
Scopus
ISSN 2056-7944 · Nature Portfolio · 462 artikel di indeks
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Artikel Jurnal
Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer
Abstract Recently, some clinics have begun using preimplantation genetic testing for monogenic disorders (PGT-M) for moderately penetrant breast cancer (BC) risk variants, while other clinics use polygenic risk scores (PRS) in the context of preimplantation embryo screening. Using both simulation…
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Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation
Abstract Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by variants in the alpha-galactosidase A gene (GLA). Cardiac complications are a major cause of mortality, but the large number of variants complicate early identification of at-risk patients. In this study, we…
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Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigrees
Abstract Moyamoya disease (MMD) is a progressive cerebrovascular disorder with intracranial arterial stenosis and collateralization. Over 70% of sporadic cases lack known genetic drivers; RNF213 variants explain only 23% of Chinese cases, highlighting unmet diagnostic and therapeutic needs…
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Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6
Abstract CYP2C19 and CYP2D6 are involved in the hepatic metabolism of approximately 35–40% of clinically used drugs. We conducted an in vivo phenotyping study encompassing 114 Estonian Biobank participants to evaluate the functional impact of rare or novel single-nucleotide and structural variants…
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Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE
Abstract Structural variants (SVs) that disrupt topologically associating domains can cause disease by rewiring enhancer-promoter interactions. Duplications involving GPR101 are known to cause X-linked acrogigantism (X-LAG) through ectopic GPR101 expression, but not all of these duplications are…
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Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation
Abstract Pathogenic germline variants (PGVs) in dyskerin pseudouridine synthase 1 (DKC1) cause X-linked recessive dyskeratosis congenita (DC), a telomere biology disorder. Females with heterozygous DKC1 PGVs rarely exhibit DC phenotypes due to favorable X chromosome inactivation (XCI). We report a…
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Artikel Jurnal
AI-genomics synergy for drug repurposing in breast cancer: an interpretability-driven framework
Abstract Breast cancer’s genomic heterogeneity complicates drug discovery, making repurposing an attractive but challenging strategy. Advances in artificial intelligence now enable integration of multi-omics data to reveal drug–gene–disease relationships and generate subtype-specific repurposing…
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Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity
Abstract Inherited retinal degenerations (IRDs) are a group of clinically and genetically heterogeneous blinding disorders. In this study, we describe five families clearly or which were presumed to be diagnosed with autosomal recessive non-syndromic IRD and one with mild syndromic IRD, in which…
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Proof-of-concept study for the detection of somatic structural variant driver alterations using HiFi long-read sequencing in a pediatric leukemia cohort
Abstract Gene fusions are common primary drivers of pediatric leukemias and are the result of underlying structural variants (SVs). Current clinical workflows to detect such alterations rely on a multimodal approach, which often increases analysis time and overall cost of testing. In this study, we…
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Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions
Abstract Chorea can arise from genetic, metabolic, pharmacologic, and autoimmune causes. In clinical practice, however, non-genetic causes are rare. The most common genetic cause is a CAG repeat expansion in HTT, leading to Huntington’s disease (HD). Beyond HD, systematic studies have been lacking…
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Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling
Abstract Clinical whole-exome sequencing (WES) has revolutionized clinical diagnostics by enabling scalable, cost-effective molecular profiling to detect somatic variants and identify novel therapeutic targets. In particular, the clinical evaluation of somatic variants relies on both high-quality…
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Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
Abstract Several studies have demonstrated the value of large-scale human exome and genome data analysis to maximise gene discovery in rare diseases. Using this approach, we have analysed the exomes of 4747 cases and 52,881 controls to identify genes which confer a substantial risk of congenital…
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Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns
Abstract Secondary findings (SFs) from genome sequencing have significant implications for disease prevention and early intervention, yet their population-specific spectrum remains poorly characterized in non-European cohorts. We performed whole-genome sequencing of 6685 Chinese newborns and…
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Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism
Abstract X-linked intellectual disability (XLID) comprises a group of heterogeneous disorders associated with impaired cognitive function and developmental delays. It has been estimated that 10% of the genes on the X-chromosome are associated with at least one form of intellectual disability. To…
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BCL2 promoter region mutations are an independent marker of BCL2 level in lymphoid malignancies
BCL2 upregulation is a key driver of lymphomagenesis and treatment response. By analyzing large-scale whole-genome datasets, we identify a lymphoma-specific noncoding mutational hotspot encompassing the BCL2 promoter that, independent of other factors such as the t(14;18) translocation, strongly…
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The Role of MYH6 Variants in atrial cardiomyopathy: insights from clinical observations and zebrafish models
Abstract Atrial cardiomyopathy, which often comes with underlying genetic defects, has been recognized as a possible substrate of atrial fibrillation. MYH6 encodes α-myosin heavy chain (α-MHC), predominantly expressed in the atria and pivotal in sarcomere organization and muscle contraction…
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Environmentally responsible human genomic data governance: points for consideration
We introduce five points for integrating environmental ethics into human genomic data governance: (i) recognizing the ethical imperative to consider environmental impacts of human genomic data; (ii) fostering collective responsibility for environmental harms; (iii) prospectively assessing benefits…
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Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes
Abstract RNA sequencing (RNA-seq) has been utilized to provide functional evidence regarding the impact of splicing variants. This study explores the utility of targeted reflex RNA-seq to inform classification of predicted splicing variants identified through clinical exome sequencing (ES) and…
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Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis
Abstract Rhabdoid tumour predisposition syndrome (RTPS) is a highly penetrant cancer predisposition syndrome caused by germline variants in SMARCB1 or less frequently in SMARCA4. Genetic testing for this syndrome involves sequence and deletion/duplication analysis of these two genes. Standard…
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Exercise-induced lactic acidemia associated with a SLC16A13 biallelic variant
Abstract The molecular basis of impaired lactate clearance and exercise-induced lactic acidemia remains largely unknown. Here, we report a 10-year-old Thai girl, born to consanguineous parents, with growth delay and partial growth hormone deficiency. The proband underwent detailed clinical…