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Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases
Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases
Common genetic variation detected by genome-wide association studies (GWAS) partially explains variability in the spectrum...
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft
Many congenital anomaly patients lack genetic diagnoses because there are many disease genes as yet to be discovered. We a...
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine
Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine
Gamma-butyrobetaine hydroxylase (BBOX1) catalyses the last step of carnitine biosynthesis, converting γ-butyrobetaine...
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways
Adolescent idiopathic scoliosis (AIS) is a complex genetic disorder. This study used whole-genome sequencing (WGS) to inve...
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant
Oro-Facial-Digital Syndrome (OFDS) and Joubert syndrome are ciliary disorders. Fifteen individuals of consanguineous Bedou...
Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome
Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome
Missense and loss-of-function variants in SPECC1L are associated with Teebi Hypertelorism Syndrome 1 (TBHS1). Here, we rep...
Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan
Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan
This study aimed to evaluate the feasibility of whole-genome sequencing (WGS) combined with computational tools for spinal...
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma
The germline genetic susceptibility to adult glioblastoma remains unclear. With the option of broad molecular testing, it ...
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome
Programmed cell death protein 1 (PD-1) is a critical immune checkpoint receptor and a target for cancer immune checkpoint ...
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis
Genetic diagnosis of ADPKD has been challenging due to the variant heterogeneity, presence of duplicated segments, and hig...
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation
Rett syndrome (RTT) is a severe neurodevelopmental disorder, with MECP2 mutations accounting for 90–95% of classic a...
NGS-based Aspergillus detection in plasma and lung lavage of children with invasive pulmonary aspergillosis
NGS-based Aspergillus detection in plasma and lung lavage of children with invasive pulmonary aspergillosis
In immunocompromised pediatric patients, diagnosing invasive pulmonary aspergillosis (IPA) poses a significant challenge. ...
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing
Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing
Individuals with heritable thoracic aortic disease (HTAD) face a high risk of deadly aortic dissections, but genetic testi...
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit
The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit
Rapid genomic diagnostics in the Neonatal Intensive Care Unit represents a paradigm shift in medicine with increasing evid...
Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial
These authors contributed equally: Kristine Barlow-Stewart, Eliza Courtney.Children’s Cancer Institute, Lowy Cancer Resear...
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...
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