- Computational resources associating diseases with genotypes ...🔍
- Prospective evaluation of the clinical utility of whole|exome ...🔍
- Complex trait associations in rare diseases and impacts on ...🔍
- About Rare Diseases🔍
- Phenotypically Similar Rare Disease Identification from an ...🔍
- Perspectives of Rare Disease Experts on Newborn Genome ...🔍
- A model for identifying autosomal recessive human gene knockouts ...🔍
- Mayo Clinic uses genomic testing broadly for rare diseases ...🔍
Expanding the genotypes and phenotypes for 19 rare diseases by ...
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 ...
Prospective evaluation of the clinical utility of whole-exome ...
... disease categories, further increasing the ... phenotype might be applied as a predictor for the etiology of rare genetic disease.
Complex trait associations in rare diseases and impacts on ... - Nature
... rare disease phenotypes and open-source polygenic scores and apply this information to rare variant interpretation and disease gene discovery.
About Rare Diseases - Orphanet
There is no cure for most rare diseases, but the appropriate treatment and medical care can improve the quality of life of those affected and extend their life ...
Phenotypically Similar Rare Disease Identification from an ...
It contains information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relationship between phenotype and genotype ...
Perspectives of Rare Disease Experts on Newborn Genome ...
Conclusions and Relevance In this survey study, rare disease experts broadly supported NBSeq for treatable conditions and demonstrated ...
A model for identifying autosomal recessive human gene knockouts ...
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts ...
Mayo Clinic uses genomic testing broadly for rare diseases ...
The overall rate where they either determined or likely determined the cause of the disease was 17.5% and as high as 66.7%, depending on the ...
Phenotypic overlap between rare disease patients and variant ...
Comprehensive and relevant phenotype and genotype data for all patients enrolled in the UDN are uploaded to the central data repository managed ...
Rare Genetic Diseases - Cell Press
This figure is increasing at a rate of 50–60 new genetic diseases ... providing an explanation to the early life appearance of rare genetic disease phenotypes.
Methods for Determining the Genetic Causes of Rare Diseases
associations between rare genotypes and the similarities between patient phenotypes and a ... Rare disease phenotypes are now frequently encoded using ...
What Precision Medicine Can Learn from Rare Genetic Disease ...
Laws like the Orphan Drug Act, which supports rare disease research,10 might need to be expanded to include increased resources for newly discovered rare ...
From disease-causing gene identification to mechanism elucidation
Monogenic disorders, also known as Mendelian diseases, are caused by a single genetic mutation and can be inherited in different manners. Most rare diseases are ...
Global health for rare diseases through primary care - The Lancet
However, some people with a rare disease are seen by specialists directly to manage individual phenotypes. These individuals are often adults or ...
Paediatric genomics: diagnosing rare disease in children
craniosynostosis): expansion of the phenotype and ... Genetic heterogeneity in Cornelia de. Lange syndrome (CdLS) and CdLS-like phenotypes.
The total number of rare diseases is steadily increasing because genetic research is beginning to explain disease patterns that we did not understand before ...
Beckwith-Wiedemann Syndrome - Symptoms, Causes, Treatment
Get Information about a Rare Disease. Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases ...
Whole Genome Sequencing: A Rare Disease Revolution
The phenotypes clinicians describe are largely encoded in the form of text-based clinical notes, often for months or years before the patient ...
Research Infrastructures useful to Rare Diseases - Orphanet
rare diseases of genetic origin. •. RD specific: Yes. •. Link: http://www.istem ... 19 Orphanet Report Series - List of research infrastructures useful to ...
The Rarest of the Rare - Front Line Genomics
Celebrating Rare Disease Day - We describe some of the rarest rare diseases that exist and the research (or lack of) that is happening.