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P634: Clinical impact of RNA sequencing on VUS resolution in a diverse rare disease cohort of over 100,000 patients* by Melanie Napier, Elizabeth Williams, Shamila Yusuff, Adi Reich, Hua Gao, Jacob Zyskind, Julianna Spangler, Katie Schafer, Bethany Friedman, Paul Kruszka, Joseph Devaney, Britt Johnson
Published 2025-01-01Get full text
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O26: Resolution of large complex VNTRs with HiFi sequencing: Applications in LPA Kringle IV-type 2 repeat and D4Z4 repeat by Xiao Chen, Zev Kronenberg, Daniel Baker, Joseph Devaney, Jessica Noya, April Berlyoung, Shamila Yusuff, Solomon Lynch, Rhonda Brandon, Kathleen Hruska, Lucas Lochovsky, Amanda Lindy, Egor Dolzhenko, Michael Eberle
Published 2025-01-01Get full text
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