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Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation
Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation
Hepatitis B virus (HBV) integration is closely associated with the onset and progression of tumors. This study utilized th...
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
The diagnostic yield of exome sequencing (ES) has primarily been evaluated in individuals of European ancestry, with less ...
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
Katrin Mannik & Katrin MännikPresent address: Health 2030 Genome Center, Foundation Campus Biotech, Geneva, Switzerlan...
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina
This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describe...
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations
A male infant presented at term with neonatal respiratory failure and pulmonary hypertension. His respiratory symptoms imp...
PDGF gene expression and p53 alterations contribute to the biology of diffuse astrocytic gliomas
PDGF gene expression and p53 alterations contribute to the biology of diffuse astrocytic gliomas
Diffuse, histologically lower grade astrocytomas of adults (LGAs) are classified based on the mutational status of the iso...
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Autophagy regulates the degradation of damaged organelles and protein aggregates, and is critical for neuronal development...
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma
Despite advancements in understanding the pathophysiology of Multiple Myeloma (MM), the cause of rapid progressing disease...
Transcriptomic analyses of patient peripheral blood with hemoglobin depletion reveal glioblastoma biomarkers
Transcriptomic analyses of patient peripheral blood with hemoglobin depletion reveal glioblastoma biomarkers
Peripheral blood is gaining prominence as a noninvasive alternative to tissue biopsy to develop biomarkers for glioblastom...
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis
Despite progress, 2-year pancreatic cancer survival remains dismal. We evaluated a biomarker-driven, combination/N-of-one ...
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
Diagnostic potential of the amniotic fluid cells transcriptome in deciphering mendelian disease: a proof-of-concept
RNA sequencing (RNA-seq) is emerging in genetic diagnoses as it provides functional support for the interpretation of vari...
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity
Immune checkpoint inhibitor (ICI) therapy has revolutionised the treatment of various cancer types. ICIs reinstate T-cell ...
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders
Single gene disorders are individually rare but collectively common leading causes of neonatal and pediatric morbidity and...
Genomic heterogeneity in pancreatic cancer organoids and its stability with culture
Genomic heterogeneity in pancreatic cancer organoids and its stability with culture
The establishment of patient-derived pancreatic cancer organoid culture in recent years creates an exciting opportunity fo...
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
Tinnitus is the phantom percept of an internal non-verbal set of noises and tones. It is reported by 15% of the population...
Brain single cell transcriptomic profiles in episodic memory phenotypes associated with temporal lobe epilepsy
Brain single cell transcriptomic profiles in episodic memory phenotypes associated with temporal lobe epilepsy
Memory dysfunction is prevalent in temporal lobe epilepsy (TLE), but little is known about the underlying molecular etiolo...
SMAD6-deficiency in human genetic disorders
SMAD6-deficiency in human genetic disorders
SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP) signalling pathway. Until now, SMAD6-defi...
Medicine and health of 21st Century: Not just a high biotech-driven solution
Medicine and health of 21st Century: Not just a high biotech-driven solution
Many biotechnological innovations have shaped the contemporary healthcare system (CHS) with significant progress to treat ...
Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA
Pathogenic variants in the OPN1LW/OPN1MW gene cluster are causal for a range of mild to severe visual impairments with col...
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
We developed a diagnostic method for repeat expansion diseases using a long-read sequencer to improve currently available,...
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer
Pancreatic cancer exhibits a characteristic tumor microenvironment (TME) due to enhanced fibrosis and hypoxia and is parti...
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome
Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations in g...
Identification of phenocopies improves prediction of targeted therapy response over DNA mutations alone
Identification of phenocopies improves prediction of targeted therapy response over DNA mutations alone
DNA mutations in specific genes can confer preferential benefit from drugs targeting those genes. However, other molecular...
Clinical variant interpretation and biologically relevant reference transcripts
Clinical variant interpretation and biologically relevant reference transcripts
Clinical variant interpretation is highly dependent on the choice of reference transcript. Although the longest transcript...
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy....
Co-design, implementation, and evaluation of plain language genomic test reports
Co-design, implementation, and evaluation of plain language genomic test reports
Understanding and communicating genomic results can be challenging for families and health professionals without genetic s...
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases...
Alternative ANKHD1 transcript promotes proliferation and inhibits migration in uterine corpus endometrial carcinoma
Alternative ANKHD1 transcript promotes proliferation and inhibits migration in uterine corpus endometrial carcinoma
Alternative splicing (AS) is common in gene expression, and abnormal splicing often results in several cancers. Overall su...
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets
The early detection of tissue and organ damage associated with autoimmune diseases (AID) has been identified as key to imp...
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