G256(P) What are the preferences for receiving additional and carrier status findings in genomics testing amongst families affected by rare conditions? Findings from the rare disease arm of the 100,000 genomes project at a specialised paediatric centre in the UK
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DOI: 10.1136/archdischild-2019-rcpch.249
Abstract: Context Patients with certain rare diseases were invited to take part and have their genome sequenced alongside their relatives with the hope of finding the diagnosis as part of the 100,000 Genomes Project (100kGP). Apart… read more here.
Keywords: status findings; carrier status; additional carrier; genomic testing ... See more keywords