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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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P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations by Ana S.A. Cohen, Cassandra Barrett, Tricia Zion, Riley Moore, Emelia Boillat, Bradley Belden, Emily Farrow, Isabelle Thiffault, Courtney Berrios, Britton Zuccarelli, Tomi Pastinen
Published 2024-01-01
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O24: Unveiling the power of HiFi genome sequencing: One test to rule them all? by Emily Farrow, Carol Saunders, Margaret Gibson, Adam Walter, Ana S.A. Cohen, Joseph Alaimo, Tricia Zion, Charlie Bi, YuXin Zhou, Guil Bourque, Adam Johnson, Byunggil Yoo, Carl Schwendinger-Schreck, Jeff Johnston, Warren Cheung, Tomi Pastinen, Isabelle Thiffault
Published 2024-01-01
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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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