- Expanding the genotypes and phenotypes for 19 rare diseases by ...🔍
- Phenotype expansion in rare disorders🔍
- Expanding what we know about rare genetic diseases🔍
- Next|generation phenotyping integrated in a national framework for ...🔍
- Phenotypic expansion illuminates multilocus pathogenic variation🔍
- Enhanced rare disease mapping for phenome|wide genetic ...🔍
- Phenocopies🔍
- Phenotype|genotype comorbidity analysis of patients with rare ...🔍
Phenotype expansion in rare disorders
Expanding the genotypes and phenotypes for 19 rare diseases by ...
Our findings expanded the genotypes and phenotypes of 19 rare diseases from PICU with complex characteristics.
Phenotype expansion in rare disorders - Breda Genetics srl
A patient with a certain syndrome caused by a mutation in a known gene may suddenly show new signs or symptoms which were unknown so far.
Expanding what we know about rare genetic diseases - Nature
Kesim and colleagues expand the phenotype by reporting neurodevelopmental phenotypes in affected individuals [3]. Hadar et al. provide insights ...
P180: Expanding the phenotype spectrum of Mendelian diseases ...
Expanded use of genomic testing in individuals with suspected genetic disease gives us the ability to identify those with atypical presentations.
Next-generation phenotyping integrated in a national framework for ...
The first quartile of ClinVar variants corresponds to the more frequently identified rare diseases and contains 40,078 variants assigned to 47 ...
Phenotypic expansion illuminates multilocus pathogenic variation
Candidate novel disease genes were identified in two additional families previously classified as having phenotypic expansion, raising the potential rate of ...
OARD: Open annotations for rare diseases and their phenotypes ...
Diagnosis for rare genetic diseases often relies on phenotype-driven methods, which hinge on the accuracy and completeness of the rare ...
Enhanced rare disease mapping for phenome-wide genetic ...
Major challenges include suboptimal phenotype mapping and limited statistical power. Population biobanks, such as the UK Biobank, recruit many ...
Phen2Gene: rapid phenotype-driven gene prioritization for rare ...
The Human Phenotype Ontology (HPO) database (6) associates human diseases with phenotypic abnormalities. These terms possess ever-increasing interoperability ...
Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses
Precise diagnosis and medical management of human diseases, especially genetic ones, can be hampered by phenocopies, genetic and phenotypic ...
Phenotype-genotype comorbidity analysis of patients with rare ...
Genetic and molecular analysis of rare disease is made difficult by the small numbers of affected patients. Phenotypic comorbidity analysis can help rectify ...
Centers for Mendelian Genomics uncovering the genomic basis of ...
There's also the concept of "phenotypic expansion." In this case, unrelated individuals appear to have different diseases, but actually have the ...
A guide for the diagnosis of rare and undiagnosed disease: beyond ...
... rare diseases including 25 novel gene-disease associations and phenotype expansions. MME also allows queries against published animal models ...
Expansion of the Human Phenotype Ontology (HPO) knowledge ...
The HPO recently achieved status as an International Rare Disease Research Consortium (IRDiRC) recognized resource and is in use by the Global ...
Curation and expansion of Human Phenotype Ontology for defined ...
Rare and undiagnosed diseases pose challenges for affected patients, clinicians, and researchers working to improve diagnostic and therapeutic approaches.
Phenotype-driven approaches to enhance variant prioritization and ...
Rare disease diagnostics and disease gene discovery have been revolutionized by whole‐exome and genome sequencing but identifying the causative ...
P817: Multivariate symptom modeling and automated phenotype ...
Incomplete penetrance, variable expressivity, and phenotype expansion are well-documented phenomena in clinical genetics. However, when rare diseases are ...
RDAD: A Machine Learning System to Support Phenotype-Based ...
However, due to the lack of clinical samples and records, the molecular cause for rare diseases is always hard to identify, significantly limiting the number of ...
Expanding genotype/phenotype of neuromuscular diseases by ...
This study demonstrated the power of NGS in confirming and expanding clinical phenotypes/genotypes of the extremely heterogeneous NMDs. Confirmed molecular ...
Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses
∙ Torra, R. Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics. Clin Kidney ...