How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
SB Wortmann, MM Oud, M Alders… - Journal of Inherited …, 2022 - Wiley Online Library
Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …
created tremendous improvement in achieving an accurate and timely molecular diagnosis …
[HTML][HTML] Temporal progress of gene expression analysis with RNA-Seq data: A review on the relationship between computational methods
Abstract Analysis of differential gene expression from RNA-seq data has become a standard
for several research areas. The steps for the computational analysis include many data …
for several research areas. The steps for the computational analysis include many data …
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …
the genome that directly encode proteins. The important role of variants in non-coding …
Aberrant splicing prediction across human tissues
Aberrant splicing is a major cause of genetic disorders but its direct detection in
transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While …
transcriptomes is limited to clinically accessible tissues such as skin or body fluids. While …
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …
after comprehensive genetic testing, primarily of protein-coding genes. Large genome …
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
J Dekker, R Schot, M Bongaerts, WG de Valk… - The American Journal of …, 2023 - cell.com
For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management,
predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a …
predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a …
Multi-level attention graph neural network based on co-expression gene modules for disease diagnosis and prognosis
Motivation Advanced deep learning techniques have been widely applied in disease
diagnosis and prognosis with clinical omics, especially gene expression data. In the …
diagnosis and prognosis with clinical omics, especially gene expression data. In the …
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease
MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial
ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the …
ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the …
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
A Cortese, SJ Beecroft, S Facchini, R Curro… - Nature …, 2024 - nature.com
Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis,
dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and …
dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and …