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  1. 1
    P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes*

    P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes* by Emily Farrow, Isabelle Thiffault, Ana Cohen, Tricia Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren Cheung, Jeffrey Johnston, Tomi Pastinen

    Published 2023-01-01
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  2. 2
    P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center

    P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center by Isabelle Thiffault, Joseph Alaimo, Vitoria Paolillo, Florencia Del Viso, Ana Cohen, Emily Farrow, Susan Starling, Maggie Humphrey, Caitlin Schwager, Lauren Bartik, Kendra Engleman, Laura Cross, Holly Welsh, Eric Rush, Shivarajan Amudhavalli, Bonnie Sullivan, Dihong Zhou, Elizabeth Shaffer, Waseem Baig, Lee Zellmer, Mary Rindler, Tricia Zion, Emelia Boillat, Tomi Pastinen, Carol Saunders, Isabelle Thiffault

    Published 2023-01-01
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