- Expanding the genotypes and phenotypes for 19 rare diseases by ...🔍
- The importance of rare diseases🔍
- Expanding genotype–phenotype correlations in FOXG1 syndrome🔍
- Few shot learning for phenotype|driven diagnosis of patients with ...🔍
- Phenotype|genotype comorbidity analysis of patients with rare ...🔍
- Identifying and Extracting Rare Diseases and Their Phenotypes with ...🔍
- Computational resources associating diseases with genotypes ...🔍
- the DECIPHERD initiative for rare undiagnosed diseases in Chile🔍
Expanding the genotypes and phenotypes for 19 rare diseases by ...
Expanding the genotypes and phenotypes for 19 rare diseases by ...
Phenotypes of some rare genetic diseases are atypical and it is a challenge for pediatric intensive care units (PICUs) to diagnose and manage such patients ...
Expanding the genotypes and phenotypes for 19 rare diseases by ...
Abstract. Phenotypes of some rare genetic diseases are atypical and it is a challenge for pediatric intensive care units (PICUs) to diagnose and ...
The importance of rare diseases: from the gene to society
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit · Medicine. Human mutation · 2021.
Expanding genotype–phenotype correlations in FOXG1 syndrome
The FOXG1 registry identified 19 gene deletions and four gene duplications. ... FOXG1 syndrome is a rare genetic neurodevelopmental disorder that ...
Few shot learning for phenotype-driven diagnosis of patients with ...
Rare diseases affect 300-400 million people worldwide, yet each disease has a very low prevalence, involving no more than 50 per 100,000 ...
Phenotype-genotype comorbidity analysis of patients with rare ...
The clusters generated can help with the diagnosis of rare diseases, by suggesting additional phenotypes for a given patient and potential underlying functional ...
Identifying and Extracting Rare Diseases and Their Phenotypes with ...
Phenotyping is critical for informing rare disease diagnosis and treatment, but disease phenotypes are often embedded in unstructured text.
Computational resources associating diseases with genotypes ...
Individual phenotype, broadly defined as any observable characteristics of an individual [5], arises from complex interactions between the above multiple ...
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 ...
the DECIPHERD initiative for rare undiagnosed diseases in Chile
We describe the implementation process and findings of the first 103 patients. They had heterogeneous phenotypes, including congenital anomalies ...
Estimating the number of diseases – the concept of rare, ultra-rare ...
However, whether concurrent diseases actually cause a distinct illness will depend on if their pathological mechanisms interact (phenotype ...
ADNP Syndrome - Symptoms, Causes, Treatment | NORD
ADNP Syndrome. Print. Last updated: 08/19/2024. Years published: 2019, 2024 ... Coffin-Siris Syndrome (CSS) is a rare genetic disorder ... phenotypes of autism ...
Hot Topics of the Day - PHGKB - CDC
We developed a compact database, called a 'Rareservoir', that contains the rare variant genotypes and phenotypes of 34,523 patients with a rare disease and ...
Genomic Diagnosis of Rare Pediatric Disease in the United ...
Genomic sequencing has made extraordinary strides toward identifying novel molecular causes for rare monogenic disorders and is becoming ...
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 ...
Study on Genotypes and Phenotypes of Pediatric Clinical Rare ...
The identification of novel genes and of rare, highly penetrant pathogenic variants is helping to enhance our understanding of genotype–phenotype correlations.
Resources and tools for rare disease variant interpretation - Frontiers
Despite the progress in our capacity to prioritize disease-causing genotypes in clinical exomes and genomes, the large number of variants that ...
... disease phenotypes where the purpose is to identify high penetrance genetic ... disease genes, thereby expanding the phenotypic spectrum.
The Future of Rare Disease Treatment with Precision Medicine
With rare diseases, identification of the molecular pathology, whether an abnormal gene or metabolic pathway, occurs simultaneously with the ...
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 ...