#ASHG23 Hoischen: HiFi genomes (on Revio), Tier 2, unsolved mysteries. Case 1: severe sporadic disease, dysmorphic (hypertelorism). May 2023 paper: https://t.co/lSvdsekrjG 4 de novo "BND-calls" Chr 2 had a del-ins mutation. "Rainbow Reads" resolved. 90kb i
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In this article from @gilissenc and @ahoischen, the authors evaluate the ability of #HiFisequencing to detect de novo mutations. The results show HiFi sequencing is capable of calling de novo mutations on all known variant levels with high accuracy. http
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New publication by our Solve-RD partner @GeneticNijmegen: @Bart_vd_S et al. evaluate the ability of @PacBio HiFi reads to detect de novo mutations 🧬 of all types. 🧵⤵️
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Here is also a link to our manuscript: https://t.co/F3w7u5Ea2v