Centers for Mendelian Genomics: A decade of facilitating gene discovery
Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the …
over the past decade. With increasing availability of exome and genome sequencing, the …
Targeted sequencing approach and its clinical applications for the molecular diagnosis of human diseases
The outbreak of COVID-19 has positively impacted the NGS market recently. Targeted
sequencing (TS) has become an important routine technique in both clinical and research …
sequencing (TS) has become an important routine technique in both clinical and research …
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 …
A deep intronic splice–altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a life-
threatening monogenic autoimmune disorder primarily caused by biallelic deleterious …
threatening monogenic autoimmune disorder primarily caused by biallelic deleterious …
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking
KM Boycott, DR Azzariti, A Hamosh… - Human mutation, 2022 - Wiley Online Library
Abstract The Matchmaker Exchange (MME) was launched in 2015 to provide a robust
mechanism to discover novel disease‐gene relationships. It operates as a federated …
mechanism to discover novel disease‐gene relationships. It operates as a federated …
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 …
Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures
Recent advances in AI-based methods have revolutionized the field of structural biology.
Concomitantly, high-throughput sequencing and functional genomics have generated …
Concomitantly, high-throughput sequencing and functional genomics have generated …
[HTML][HTML] Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
E Engal, KT Oja, R Maroofian, O Geminder… - The American Journal of …, 2023 - cell.com
Over two dozen spliceosome proteins are involved in human diseases, also referred to as
spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal …
spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal …
Exome sequencing and the identification of new genes and shared mechanisms in polymicrogyria
Importance Polymicrogyria is the most commonly diagnosed cortical malformation and is
associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and …
associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and …
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
SL Stenton, MC O'Leary, G Lemire, GE VanNoy… - Human Genomics, 2024 - Springer
Background A major obstacle faced by families with rare diseases is obtaining a genetic
diagnosis. The average" diagnostic odyssey" lasts over five years and causal variants are …
diagnosis. The average" diagnostic odyssey" lasts over five years and causal variants are …