P586: The qMini assay identifies an overlooked class of splice variants by Bin Guan, Chelsea Bender, Robert Hufnagel

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P533: Minigene splicing assay confirms the pathogenicity of the non-canonical splice site variant c.11+5G>A in RPE65 by Madhulatha Pantrangi, Bin Guan, Kristy Lee, Nia Moore, William Hankey, Robert Hufnagel

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P657: Structural variants identified by short-read genome sequencing solves missing heritability in retinal dystrophies by Ehsan Ullah, Amelia Naik, Chelsea Bender, Delphine Blain, Laryssa Huryn, Robert Hufnagel, Bin Guan

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P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy* by Bin Guan, Amelia Naik, Ehsan Ullah, David McGaughey, Aime Agather, Brian Brooks, Robert Hufnagel

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P488: Interrogating the pathologic noncoding genome with tissue-specific multiomics* by Robert Hufnagel, David McGaughey, Ameera Mungale, Koray Kaya, Bin Guan, Michelle Brinkmeier, Lev Prasov, Temesgen Fufa

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P336: Resolving missing heritability by iterative multidisciplinary and organ-specific reanalysis by Ehsan Ullah, Bin Guan, Amelia Naik, Chelsea Bender, Ranya Al Rawi, Delphine Blain, Aime Agather, Laryssa Huryn, Wadih Zein, Catherine Cukras, Brian Brooks, Robert Hufnagel

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