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MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission
Identifying critically ill newborns who will benefit from whole genome sequencing (WGS) is difficult and time-consuming du...
Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration
Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration
Genome-wide association studies (GWAS) have established key role of immune dysfunction in Age-related Macular Degeneration...
Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity
Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity
Saliva is an accessible biofluid with potential for non-invasive disease diagnostics. This study explores how genetic susc...
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system
The Genomic Medicine for Everyone (Geno4ME) study was established across the seven-state Providence Health system to enabl...
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing
Despite advances in genome sequencing, many individuals with rare genetic disorders remain undiagnosed. Transcriptional pr...
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines
Variants affecting pre-mRNA splicing mechanisms are responsible for multiple monogenic disorders. However, their prioritiz...
Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger
Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger
Limited information is available for TP53 pathogenic variants (PVs) in early-onset breast cancer patients in China. We inv...
A narrative review of research advancements in pharmacogenetics of cardiovascular disease and impact on clinical implications
A narrative review of research advancements in pharmacogenetics of cardiovascular disease and impact on clinical implications
Pharmacogenetics can enhance cardiovascular disease (CVD) treatment by tailoring drug therapy to genetic profiles and mini...
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...
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