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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families ...
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, m...
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants
The majority of human genetic diseases are caused by single nucleotide variants (SNVs) in the genome sequence. Excitingly,...
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders
Early use of genome sequencing (GS) in the diagnostic odyssey can reduce suffering and improve care, but questions remain ...
A call for increased inclusivity and global representation in pharmacogenetic testing
Commercial pharmacogenetic testing panels capture a fraction of the genetic variation underlying medication metabolism and...
Single cell-transcriptomic analysis informs the lncRNA landscape in metastatic castration resistant prostate cancer
Single cell-transcriptomic analysis informs the lncRNA landscape in metastatic castration resistant prostate cancer
Metastatic castration-resistant prostate cancer (mCRPC) is a lethal form of prostate cancer. Although long-noncoding RNAs ...
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes
Innovations in sequencing technology have led to the discovery of novel mutations that cause inherited diseases. However, ...
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disord...
Eliciting parental preferences and values for the return of additional findings from genomic sequencing
Eliciting parental preferences and values for the return of additional findings from genomic sequencing
Health economic evidence is needed to inform the design of high-value and cost-effective processes for returning genomic r...
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand
Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand
Multi-gene panel testing has led to the detection of pathogenic/likely pathogenic (P/LP) variants in many cancer susceptib...
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome
Whole genome sequencing (WGS) at high-depth (30X) allows the accurate discovery of variants in the coding and non-coding D...
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer
Divergent immune microenvironments in two tumor nodules from a patient with mismatch repair-deficient prostate cancer
Patients with prostate cancer (PC) generally do not respond favorably to immune checkpoint inhibitors, which may be due to...
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants
Inherited retinal diseases (IRDs) are a group of common primary retinal degenerative disorders. Conventional genetic testi...
Highly efficient capture approach for the identification of diverse inherited retinal disorders
Highly efficient capture approach for the identification of diverse inherited retinal disorders
Our study presents a 319-gene panel targeting inherited retinal dystrophy (IRD) genes. Through a multi-center retrospectiv...
Kagami Ogata syndrome: a small deletion refines critical region for imprinting
Kagami Ogata syndrome: a small deletion refines critical region for imprinting
Kagami–Ogata syndrome is a rare imprinting disorder and its phenotypic overlap with multiple different etiologies ha...
Breaking the mold with RNA—a “RNAissance” of life science
Breaking the mold with RNA—a “RNAissance” of life science
In the past decade, RNA therapeutics have gone from being a promising concept to one of the most exciting frontiers in hea...
Characterizing the pathogenicity of genetic variants: the consequences of context
Characterizing the pathogenicity of genetic variants: the consequences of context
Beyond initial discovery of a pathogenic variant, establishing that a variant is recurrently associated with disease is im...
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population
It has been suggested that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ...
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal d...
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer
Somatic PTEN mutations are common and have driver function in some cancer types. However, in colorectal cancers (CRCs), so...
Populational pan-ethnic screening panel enabled by deep whole genome sequencing
Populational pan-ethnic screening panel enabled by deep whole genome sequencing
Birth defect is a global threat to the public health systems. Mitigating neonatal anomalies is hampered by elusive molecul...
uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, autosomal dominant, vascular disorder. About 80% of cases are cause...
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity
Bassoon (BSN) is a component of a hetero-dimeric presynaptic cytomatrix protein that orchestrates neurotransmitter release...
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population
Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USAAnne Slavotinek, Shannon Rego, Ti...
CNS tumor stroma transcriptomics identify perivascular fibroblasts as predictors of immunotherapy resistance in glioblastoma patients
CNS tumor stroma transcriptomics identify perivascular fibroblasts as predictors of immunotherapy resistance in glioblastoma patients
Excessive deposition of extracellular matrix (ECM) is a hallmark of solid tumors; however, it remains poorly understood wh...
Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants
Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants
The consequences of returning infectious pathogen test results identified incidentally in research studies have not been w...
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome
Epidemiological studies suggest that individuals with neurodevelopmental disorders (NDDs) are more prone to develop certai...
Clinically significant germline pathogenic variants are missed by tumor genomic sequencing
A germline pathogenic variant may be present even if the results of tumor genomic sequencing do not suggest one. There are...
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases
Von Willebrand disease (VWD) is a common bleeding disorder caused by mutations in the von Willebrand factor gene (VWF). Th...
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited hear...