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Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration
Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity....
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand
Approximately 200 critically ill infants and children in New Zealand are in high-dependency care, many suspected of having...
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population
The genetic architecture of white matter lesions (WMLs) in Asian populations has not been well-characterized. Here, we per...
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases
Germline sequence variation in cancer genes in Rwandan breast and prostate cancer cases
Cancer genetic data from Sub-Saharan African (SSA) are limited. Patients with female breast (fBC), male breast (mBC), and ...
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases
The global burden of undiagnosed diseases, particularly in adults, is rising due to their significant socioeconomic impact...
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes
Boston Children’s Hospital has established a genomic sequencing and analysis research initiative to improve clinical...
Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer
Comparative transcriptomic, epigenomic and immunological analyses identify drivers of disparity in high-grade serous ovarian cancer
Black women face the highest mortality-to-incidence ratio from high grade serous ovarian cancer (HGSOC). This study invest...
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
Autism spectrum disorder (ASD) comprises neurodevelopmental disorders with wide variability in genetic causes and phenotyp...
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome
Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrom...
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action
Despite these advancements, only a small fraction of the population is covered for GS, and such testing is largely inacces...
Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib
Genomic and clinical characterization of a familial GIST kindred intolerant to imatinib
Familial gastrointestinal stromal tumors (GIST) are rare. We present a kindred with multiple family members affected with ...
Future implications of polygenic risk scores for life insurance underwriting
Tiller, J., Otlowski, M. & Lacaze, P. Should Australia ban the use of genetic test results in life insurance? Front. P...
Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review
Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review
Hereditary cancer syndromes constitute approximately 10% of all cancers. Cascade testing involves testing of at-risk relat...
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel ...
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
replying to Wissinger, B. npj Genomic Medicine https://doi.org/10.1038/s41525-024-00406-y (2024)We re...
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
arising from Haer-Wigman, L. et al. npj Genomic Medicine https://doi.org/10.1038/s41525-022-00334-9 (...
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...
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