The human phenotype ontology in 2017
Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
Deep intronic mutations and human disease
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …
substantial proportion of patients, sequence information restricted to exons and exon–intron …
Whole-genome sequencing of patients with rare diseases in a national health system
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological
variants and causative genes for more than half such disorders remain to be discovered …
variants and causative genes for more than half such disorders remain to be discovered …
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …
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 …
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …
of care is often a time-consuming stepwise approach involving chromosomal microarray …
[PDF][PDF] The human phenotype ontology in 2017
Deep phenoty** has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
phenotypic abnormalities in which the individual components of the phenotype are observed …
Lessons from non-canonical splicing
Recent improvements in experimental and computational techniques that are used to study
the transcriptome have enabled an unprecedented view of RNA processing, revealing many …
the transcriptome have enabled an unprecedented view of RNA processing, revealing many …
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening
infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic …
infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic …
Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease
Purpose To devise a comprehensive multiplatform genetic testing strategy for inherited
retinal disease and to describe its performance in 1000 consecutive families seen by a …
retinal disease and to describe its performance in 1000 consecutive families seen by a …