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Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications https://t.co/zVPgSrtySm
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications https://t.co/zVPgSrtySm
RT @GabySchobers: The first paper of my PhD is available online! Both reanalysis of existing NGS data as well as resequencing strategies s…
Great 👍 work by @GabySchobers showing that when facing genetically unsolved patients both reanalysis of existing ES data as well as resequencing strategies are needed to identify additional genetic diagnoses. #genetics #reanalysis @CheckOrphan @Orphanet @R