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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...
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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