A call to action to scale up research and clinical genomic data sharing
Genomic data from millions of individuals have been generated worldwide to drive discovery
and clinical impact in precision medicine. Lowering the barriers to using these data …
and clinical impact in precision medicine. Lowering the barriers to using these data …
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
More than 50% of families with suspected rare monogenic diseases remain unsolved after
whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) …
whole-genome analysis by short-read sequencing (SRS). Long-read sequencing (LRS) …
RNA splicing: a split consensus reveals two major 5′ splice site classes
MT Parker, SM Fica, GG Simpson - Open Biology, 2025 - royalsocietypublishing.org
The established consensus sequence for human 5′ splice sites masks the presence of two
major splice site classes defined by preferential base-pairing potentials with either U5 …
major splice site classes defined by preferential base-pairing potentials with either U5 …
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Genetic diagnosis of rare diseases requires accurate identification and interpretation of
genomic variants. Clinical and molecular scientists from 37 expert centers across Europe …
genomic variants. Clinical and molecular scientists from 37 expert centers across Europe …
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy
The major spliceosome comprises the five snRNAs U1, U2, U4, U5 and U6. We recently
showed that mutations in RNU4-2, which encodes U4 snRNA, cause one of the most …
showed that mutations in RNU4-2, which encodes U4 snRNA, cause one of the most …
De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and …
The heterotrimeric protein phosphatase 2A (PP2A) complex catalyzes about half of Ser/Thr
dephosphorylations in eukaryotic cells. A CAG repeat expansion in the neuron-specific …
dephosphorylations in eukaryotic cells. A CAG repeat expansion in the neuron-specific …
Rare developmental disorder caused by variants in a small RNA gene
H Heyne - 2024 - nature.com
Rare developmental disorder caused by variants in a small RNA gene Skip to main content
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Deep phenoty** of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
I Valenzuela, M Codina-Solà, E Vazquez… - Genetics in …, 2024 - Elsevier
Purpose Despite ever-increasing knowledge of the genetic etiologies of
neurodevelopmental disorders, approximately half remain undiagnosed after exome or …
neurodevelopmental disorders, approximately half remain undiagnosed after exome or …
ReNU syndrome–a newly discovered prevalent neurodevelopmental disorder
VF Burns, EJ Radford - Trends in Genetics, 2024 - cell.com
Two recent papers have identified genetic variants in the noncoding gene RNU4-2 to cause
a frequent neurodevelopmental disorder. This work will have a substantial impact on the …
a frequent neurodevelopmental disorder. This work will have a substantial impact on the …
GREGoR: Accelerating Genomics for Rare Diseases
Rare diseases are collectively common, affecting approximately one in twenty individuals
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …