Search Results (22)
Click the Why column to see why an item matched the search.
| Match | Type | Why |
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| Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. | Academic Article |
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| Developing a community-led rare disease ELSI research agenda. | Academic Article |
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| Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics. | Academic Article |
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| Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. | Academic Article |
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| Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients. | Academic Article |
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| Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children. | Academic Article |
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| Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. | Academic Article |
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| Congenital H-type tracheoesophageal fistula: A multicenter review of outcomes in a rare disease. | Academic Article |
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| Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. | Academic Article |
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| Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort. | Academic Article |
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| Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations. | Academic Article |
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| Reverse Translation in Advancing Pharmacotherapy in Pediatric Rheumatology: A Logical Approach in Rare Diseases with Limited Resources. | Academic Article |
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| Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scores. | Academic Article |
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| Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing. | Academic Article |
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| Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease. | Academic Article |
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