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RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
While Research Electronic Data Capture (REDCap) is widely adopted in rare disease research, its unconstrained data format ...
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer
Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer
Nineteen genomic regions have been associated with high-grade serous ovarian cancer (HGSOC). We meta-analyzed >22 m...
Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study
Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study
Impairment of axonal transport has been emphasized as a common feature in a series of neurodegenerative diseases (NDs). Va...
Transferability of polygenic risk scores for metabolic and cardiovascular traits in an underrepresented population
Transferability of polygenic risk scores for metabolic and cardiovascular traits in an underrepresented population
Polygenic risk scores (PRSs) are promising tools for genetic risk stratification, but their performance across ancestries ...
Improving polygenic risk score based drug response prediction using transfer learning
Improving polygenic risk score based drug response prediction using transfer learning
Traditional methods for pharmacogenomics (PGx), like those using disease-specific polygenic risk scores (PRS-Dis), often f...
Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement
Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement
Epstein-Barr virus (EBV) is an oncogenic virus ubiquitous in human populations. CD8 T cells play a crucial role in establi...
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature
UBR5 encodes an E3 ubiquitin-protein ligase which targets distinct N-terminal residues of proteins for degradation. Hetero...
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...
Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension
Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension
In patients with complex congenital heart disease (CHD) pathogenic SMAD6 variants have been described previously. The aim ...
Review: Utility of mass spectrometry in rare disease research and diagnosis
Review: Utility of mass spectrometry in rare disease research and diagnosis
Individuals affected by a rare disease often experience a long and arduous diagnostic odyssey. Delivery of genetic answers...
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC
Familial adenomatous polyposis (FAP) is caused by pathogenic germline variants in the tumor suppressor gene APC. Confirmat...
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...
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