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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...
Serum microRNA expression quantitative trait loci in children with asthma colocalize with asthma-related GWAS results
Serum microRNA expression quantitative trait loci in children with asthma colocalize with asthma-related GWAS results
Asthma poses a significant public health burden. Despite identifying more than a hundred genetic risk loci in genome-wide ...
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Despite advanced diagnostic tools, early detection of rare genetic conditions like Noonan syndrome (NS) remains challengin...
Genomics on FHIR – a feasibility study to support a National Strategy for Genomic Medicine
Genomics on FHIR – a feasibility study to support a National Strategy for Genomic Medicine
The German National Strategy for Genomic Medicine (genomDE) aims to integrate genome sequencing into standard healthcare. ...
A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript
A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript
Pathogenicity assessment of genetic variants is the cornerstone of genetic counselling. Copy gains of exons are challengin...
Rapid generation of a sdhb loss-of-function zebrafish model for secreting pheochromocytomas and paragangliomas
Rapid generation of a sdhb loss-of-function zebrafish model for secreting pheochromocytomas and paragangliomas
Genotype plays a central role in the comprehensive management of pheochromocytomas and paragangliomas, highlighting the cr...
Efficient reinterpretation of rare disease cases using Exomiser
Efficient reinterpretation of rare disease cases using Exomiser
Whole genome sequencing has transformed rare disease research; however, 50–80% of rare disease patients remain undia...
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes
Long-read sequencing can often overcome the deficiencies in routine microarray or short-read technologies in detecting com...
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism
Genome-wide sequencing of the DNA that can be obtained from a newborn screening blood spot could provide predictions of th...
Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology
Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology
The NRXN1 locus is a hotspot for non-recurrent copy number variants and exon-disrupting NRXN1 deletions have been associat...
Functional assessment of IDUA variants of uncertain significance identified by newborn screening
Functional assessment of IDUA variants of uncertain significance identified by newborn screening
With the expansion of newborn screening efforts for MPS disorders, the number of identified variants of uncertain signific...
Clinical and genetic characterization of patients with late onset Wilson’s disease
Clinical and genetic characterization of patients with late onset Wilson’s disease
Wilson’s disease (WD) typically manifests in children and young adults, with little knowledge of its late-onset form...
Author Correction: The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, 753...
Genomes in clinical care
Genomes in clinical care
In the era of precision medicine, genome sequencing (GS) has become more affordable and the importance of genomics and mul...
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare var...
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 ...
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...
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