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Rare-disease genetics in the era of next-generation sequencing: discovery to translation | Nature Reviews Genetics
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Whole-genome sequencing of patients with rare diseases in a national health system | Nature
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts | Nature Medicine
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Sequencing.com | Comprehensive Rare Disease Screening
Sequencing.com | Comprehensive Rare Disease Screening
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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study - The Lancet Neurology
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Genetic Testing for Rare Diseases | List of Genetic Diseases | Page - 1 | Sequencing.com
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Exome Sequencing Deciphers Rare Diseases: Cell
Sequencing.com | Comprehensive Rare Disease Screening
Sequencing.com | Comprehensive Rare Disease Screening
Time to make rare disease diagnosis accessible to all | Nature Medicine
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Sequencing 101: Whole Genome Sequencing for Rare Diseases
Sequencing whole genomes helps diagnose more rare diseases
Complex genomic rearrangements: an underestimated cause of rare diseases: Trends in Genetics
Genetic Testing & DNA Analysis for Rare Diseases at Sequencing.com | Sequencing.com
Genome sequencing and implications for rare disorders | Orphanet Journal of Rare Diseases | Full Text
