Article

Resolution of ring chromosomes, Robertsonian translocations, and complex structural…

medRxiv · 2023 · Mostovoy, Y.; Boone, P. M.; Huang, Y.; Garimella, K. V.; Tan, K.-T.; Russell, B. E.; Salani, M.; Curall, B.; Lucente, D.; Bowers, T.; DeSmet, T.; Gabriel, S.; Morton, C. C.; Meyerson, M.; Gusella, J.; Quintero-Rivera, F.; Brand, H.; Talkowski, M. E.

Key facts

Title Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
First author Mostovoy, Y.; Boone, P. M.; Huang, Y.; Garimella, K. V.; Tan, K.-T.; Russell, B. E.; Salani, M.; Curall, B.; Lucente, D.; Bowers, T.; DeSmet, T.; Gabriel, S.; Morton, C. C.; Meyerson, M.; Gusella, J.; Quintero-Rivera, F.; Brand, H.; Talkowski, M. E.
Journal medRxiv
Published Sep 8, 2023
DOI 10.1101/2023.09.07.555775
Devices mentioned K801913, K832204, K871945, K961896
Product codes mentioned JJQ, MVU, JQW, JTC

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  • 1–9 FDA submissions mentioned
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