Add to ORKGClinical exome sequencing is frequently used to identify gene-disrupting variants in individuals with neurodevelopmental disorders. While splice-disrupting variants are known to contribute to these disorders, clinical interpretation of cryptic splice variants outside of the canonical splice site has been challenging. Here, we discuss papers that improve such detection
A precise genetic diagnosis is the single most important step for families with genetic disorders to...
The importance of alternative splicing in the regulation of diverse biological processes is reflecte...
Mutations that lead to splicing defects can have severe consequences on gene function and cause dise...
Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals wit...
Background For families with rare Mendelian disorders, obtaining a precise genetic diagnosis is ess...
International audienceBackgroundMolecular diagnosis of neurodevelopmental disorders (NDDs) is mainly...
BackgroundGenomic variants which disrupt splicing are a major cause of rare genetic diseases. Howeve...
Mutations which affect splicing are significant contributors to rare disease, but are frequently ove...
In this thesis the main focus is the use of methods and applications of next generation sequencing i...
To facilitate precision medicine and whole genome annotation, we developed a machine learning techni...
Post-transcriptional regulation is a set of important biological functions taking place during the g...
For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting out...
Splicing is a critical step in mRNA maturation with roles in gene regulation and proteome diversific...
Alternative splicing plays important role in brain development, however its global contribution to h...
Alternative splicing is a tightly regulated biological process by which the number of gene products ...
A precise genetic diagnosis is the single most important step for families with genetic disorders to...
The importance of alternative splicing in the regulation of diverse biological processes is reflecte...
Mutations that lead to splicing defects can have severe consequences on gene function and cause dise...
Clinical exome sequencing is frequently used to identify gene-disrupting variants in individuals wit...
Background For families with rare Mendelian disorders, obtaining a precise genetic diagnosis is ess...
International audienceBackgroundMolecular diagnosis of neurodevelopmental disorders (NDDs) is mainly...
BackgroundGenomic variants which disrupt splicing are a major cause of rare genetic diseases. Howeve...
Mutations which affect splicing are significant contributors to rare disease, but are frequently ove...
In this thesis the main focus is the use of methods and applications of next generation sequencing i...
To facilitate precision medicine and whole genome annotation, we developed a machine learning techni...
Post-transcriptional regulation is a set of important biological functions taking place during the g...
For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting out...
Splicing is a critical step in mRNA maturation with roles in gene regulation and proteome diversific...
Alternative splicing plays important role in brain development, however its global contribution to h...
Alternative splicing is a tightly regulated biological process by which the number of gene products ...
A precise genetic diagnosis is the single most important step for families with genetic disorders to...
The importance of alternative splicing in the regulation of diverse biological processes is reflecte...
Mutations that lead to splicing defects can have severe consequences on gene function and cause dise...