P443: Genetic screening of a reportedly healthy population for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and Lynch syndrome by Christin Collins, Suresh Shenoy, Abhinav Mathur, Madhuri Hegde

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P696: Case presentation: Co-segregation of a rare GLA variant of uncertain significance within 2 multiplex families facilitates variant reclassification to pathogenic by Mary Colasanto, Yinghong Pan, Ruby Liu, Christin Collins, Madhuri Hegde

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P441: Genomic and biochemical profile of pseudodeficiency in lysosomal storage disorders by Xiangwen Chen-Deutsch, Taraka Donti, Zhili Lin, Christin Collins, Madhuri Hegde

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P581: Comparison of GLA variant profile in newborn screening confirmatory testing and diagnostic testing for Fabry disease* by Xiangwen Chen-Deutsch, Rizwan Yousaf, Yinghong Pan, Christin Collins, Madhuri Hegde

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P729: Identification of multiple diagnoses in pediatric patients through genome sequencing by Christin Collins, Fen Guo, Ruby Liu, Yinghong Pan, Mary Colasanto, Madhuri Hegde

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P157: Efficiency of genome sequencing in establishing molecular diagnosis in undiagnosed patients by Arul Duraisamy, Lakshmanan Jagannathan, Shruti Sureshkumar, Rajiv Rose, Christin Collins, Madhuri Hegde

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P599: Beyond single nucleotide variants and copy number variations: Spinal muscular atrophy and repeat expansion disorders screening by whole genome sequencing by Ruby Liu, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Madhuri Hegde

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P567: Comprehensive genetic testing gives a high diagnostic yield in the Indian sub-continent compared to the western population by Shruti Sureshkumar, Arul Joseph Duraisamy, Lakshmanan Jagannathan, Rajiv Rose, Christin Collins, Madhuri Hegde

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P566: Importance Of parental segregation studies and its role in variant classification by Shruti Sureshkumar, Arul Joseph Duraisamy, Lakshmanan Jagannathan, Rajiv Rose, Christin Collins, Madhuri Hegde

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P502: How does multiomics help variant reclassification? by Ruby Liu, Fen Guo, Babi Ramesh Reddy Nallamilli, Christin Collins, Lora Bean, Naga Guruju, Madhuri Hegde

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P638: Genomic breakpoint analysis facilitates identification of complex rearrangements and re-classification of non-tandem duplications in the DMD gene by Naga Guruju, Vanessa Jump, Ruby Liu, Babi Ramesh Reddy Nallamilli, Jill Steigerwalt, Christin Collins, Lora Bean, Madhuri Hegde

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P679: Ultrarapid whole genome sequencing facilitates early definitive diagnosis of rare genetic disorders by Babi Ramesh Reddy Nallamilli, Jagannathan Lakshmanan, Vinish Ramachander, Supan Dhillon, Ruby Liu, Yinghong Pan, Naga Guruju, Christin Collins, Lora Bean, Madhuri Hegde

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P425: Unparalleled power of genome sequencing in screening ostensibly healthy newborns and children: Findings from the first real-world dataset by Jorune Balciuniene, Ruby Liu, Christin Collins, Lora Bean, Fen Guo, Babi Ramesh Reddy Nallamilli, Naga Guruju, Xiangwen Chen-Deutsch, Rizwan Yousaf, Kristina Fura, Ephrem Chin, Cristina da Silva, Abhinav Mathur, Zeqiang Ma, Madhuri Hegde

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P426: Recognizing the promise and potential pitfalls of genomic medicine through routine rapid whole genome sequencing by Lora Bean, Christin Collins, Fen Guo, Jorune Balciuniene, Xiangwen Chen-Deutsch, Babi Ramesh Reddy Nallamilli, Naga Guruju, Rizwan Yousaf, Kristina Fura, Amber Woodman, Ruby Liu, Jenny Zhang, Kate Liebmann, Julia Gerow, Ephrem Chin, Madhuri Hegde

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P714: Genome screening of newborns: Sequencing is easy, assessing the clinical utility of genomic findings uncovered in asymptomatic children is challenging by Jorune Balciuniene, Ruby Liu, Lora Bean, Babi Ramesh Reddy Nallamilli, Naga Guruju, Xiangwen Chen-Deutsch, Rizwan Yousaf, Kristina Fura, Eprem Chin, Abhinav Mathur, Zeqiang Ma, Jonathan Carmichael, Christin Collins, Cristina da Silva, Brian Kirmse, Steven Bleyl, Madhuri Hegde

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Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy by Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang

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