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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...
Curated incidence of lysosomal storage diseases from the Taiwan Biobank
Curated incidence of lysosomal storage diseases from the Taiwan Biobank
Lysosomal storage diseases (LSDs) are a group of metabolic disorders resulting from a deficiency in one of the lysosomal h...
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number
Williams-Beuren syndrome (WBS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders caused by del...
A pan-sarcoma landscape of telomeric content shows that alterations in RAD51B and GID4 are associated with higher telomeric content
A pan-sarcoma landscape of telomeric content shows that alterations in RAD51B and GID4 are associated with higher telomeric content
Tumor cells need to activate a telomere maintenance mechanism, enabling limitless replication. The bulk of evidence suppor...
Structural variation of the coding and non-coding human pharmacogenome
Structural variation of the coding and non-coding human pharmacogenome
Genetic variants in drug targets and genes encoding factors involved in drug absorption, distribution, metabolism and excr...
Pan-cancer atlas of somatic core and linker histone mutations
Pan-cancer atlas of somatic core and linker histone mutations
Recent genomic data points to a growing role for somatic mutations altering core histone and linker histone-encoding genes...
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
Genomic sequences residing within introns of few genes have been shown to act as enhancers affecting expression of neighbo...
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine
Niemann-Pick type C (NPC) disease is a lysosomal storage disease (LSD) characterized by the buildup of endo-lysosomal chol...
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases
Phasing genetic variants is essential in determining those that are potentially disease-causing. In autosomal recessive in...
T-cell priming transcriptomic markers: implications of immunome heterogeneity for precision immunotherapy
T-cell priming transcriptomic markers: implications of immunome heterogeneity for precision immunotherapy
Immune checkpoint blockade is effective for only a subset of cancers. Targeting T-cell priming markers (TPMs) may enhance ...
Scaling-up and future sustainability of a national reproductive genetic carrier screening program
Scaling-up and future sustainability of a national reproductive genetic carrier screening program
An understanding of factors influencing implementation is essential to realise the benefits of population-based reproducti...
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q1...
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of kidney failure and is primarily...
Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome
Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome
Women with germline PTEN variants (PTEN hamartoma tumor syndrome, PHTS) have up to 85% lifetime risk of female breast canc...
Tumor collagens predict genetic features and patient outcomes
Tumor collagens predict genetic features and patient outcomes
The extracellular matrix (ECM) is a critical determinant of tumor fate that reflects the output from myriad cell types in ...
Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation
Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation
Genomic medicine is being implemented on a global scale, requiring a genomic-competent health workforce. To inform educati...
Author Correction: Accurate detection of circulating tumor DNA using nanopore consensus sequencing
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, whi...
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 ...
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