A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome
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| Atalaia, Antonio | CCSD
International audience.
Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed di...
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
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| Sommer, Anna Katharina | CCSD
International audience.
Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine...
