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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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A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. by J Brent Richards, Dawn Waterworth, Stephen O'Rahilly, Marie-France Hivert, Ruth J F Loos, John R B Perry, Toshiko Tanaka, Nicholas John Timpson, Robert K Semple, Nicole Soranzo, Kijoung Song, Nuno Rocha, Elin Grundberg, Josée Dupuis, Jose C Florez, Claudia Langenberg, Inga Prokopenko, Richa Saxena, Robert Sladek, Yurii Aulchenko, David Evans, Gerard Waeber, Jeanette Erdmann, Mary-Susan Burnett, Naveed Sattar, Joseph Devaney, Christina Willenborg, Aroon Hingorani, Jaquelin C M Witteman, Peter Vollenweider, Beate Glaser, Christian Hengstenberg, Luigi Ferrucci, David Melzer, Klaus Stark, John Deanfield, Janina Winogradow, Martina Grassl, Alistair S Hall, Josephine M Egan, John R Thompson, Sally L Ricketts, Inke R König, Wibke Reinhard, Scott Grundy, H-Erich Wichmann, Phil Barter, Robert Mahley, Y Antero Kesaniemi, Daniel J Rader, Muredach P Reilly, Stephen E Epstein, Alexandre F R Stewart, Cornelia M Van Duijn, Heribert Schunkert, Keith Burling, Panos Deloukas, Tomi Pastinen, Nilesh J Samani, Ruth McPherson, George Davey Smith, Timothy M Frayling, Nicholas J Wareham, James B Meigs, Vincent Mooser, Tim D Spector, GIANT Consortium
Published 2009-12-01Get full text
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