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Developing a community-led rare disease ELSI research agenda.Academic Article Why?
Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.Academic Article Why?
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.Academic Article Why?
Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients.Academic Article Why?
Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children.Academic Article Why?
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.Academic Article Why?
Congenital H-type tracheoesophageal fistula: A multicenter review of outcomes in a rare disease.Academic Article Why?
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.Academic Article Why?
Pastinen, TomiPerson Why?
Rare DiseasesConcept Why?
Cohen, AnaPerson Why?
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.Academic Article Why?
Reverse Translation in Advancing Pharmacotherapy in Pediatric Rheumatology: A Logical Approach in Rare Diseases with Limited Resources.Academic Article Why?
Younger, ScottPerson Why?
Smail, CraigPerson Why?
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