Search Results - "Harley, John Barker"

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience by Valencia, C Alexander, Husami, Ammar, Holle, Jennifer, Johnson, Judith A, Qian, Yaping, Mathur, Abhinav, Wei, Chao, Indugula, Subba Rao, Zou, Fanggeng, Meng, Haiying, Wang, Lijun, Li, Xia, Fisher, Rachel, Tan, Tony, Hogart Begtrup, Amber, Collins, Kathleen, Wusik, Katie A, Neilson, Derek, Burrow, Thomas, Schorry, Elizabeth, Hopkin, Robert, Keddache, Mehdi, Harley, John Barker, Kaufman, Kenneth M, Zhang, Kejian

“…There are limited reports of the use of whole exome sequencing (WES) as a clinical diagnostic tool. Moreover, there are no reports addressing the cost burden…”
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The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors by Patel, Zubin H, Kottyan, Leah C, Lazaro, Sara, Williams, Marc S, Ledbetter, David H, Tromp, Hbgerard, Rupert, Andrew, Kohram, Mojtaba, Wagner, Michael, Husami, Ammar, Qian, Yaping, Valencia, C Alexander, Zhang, Kejian, Hostetter, Margaret K, Harley, John B, Kaufman, Kenneth M

“…Next Generation Sequencing studies generate a large quantity of genetic data in a relatively cost and time efficient manner and provide an unprecedented…”
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Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts by Bahram eNamjou, Bahram eNamjou, Keith eMarsolo, Keith eMarsolo, Robert eCarroll, Joshua eDenny, Marylyn D Ritchie, shefali esetia, Todd eLingren, Todd eLingren, Aleksey ePorollo, Aleksey ePorollo, Aleksey ePorollo, Beth ecobb, Cassandra ePerry, Leah Claire Kottyan, Leah Claire Kottyan, Leah Claire Kottyan, Ingrid Adele Holm, Isaac eKohane, John Barker Harley, John Barker Harley, John Barker Harley, John Barker Harley

“…Objective: We report the first pediatric specific Phenome-Wide Association Study (PheWAS) using electronic medical records (EMRs). Given the early success of…”
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