The Utah NeoSeq Project: Developing and Implementing Genomic Sequencing in Acute Neonatal Care
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Presenting Author - Sabrina Malone Jenkins, MD; Co-Author - Brian J. Shayota, MD, MPH; Co-Author - Chelsea Solorzano, BSN, RN; Co-Author - Rachel Palmquist, MS, CGC; Co-Author - Steven E. Boyden, PhD; Co-Author - Barry Moore, MS BS; Co-Author - Thomas J. Nicholas; Co-Author - Rong Mao, MD; Co-Author - Pinar Bayrak-Toydemir; Co-Author - Katherine Noble, PHD; Co-Author - Andrew Farrell, PHD; Co-Author - Edgar J. Hernandez, PhD; Co-Author - Shawn Rynearson, BS; Co-Author - Carson Holt, PHD; Co-Author - Alistair N. Ward, MA, MSci, MS, PhD; Co-Author - Najla Al-Sweel, PhD, DABMGG; Co-Author - Jian M. Zhao, PhD; Co-Author - Makenzie L. Fulmer, PhD; Co-Author - Lucilla Pizzo, PhD; Co-Author - Ting Wen, PHD, MBBS; Co-Author - John M. O'Shea, PhD; Co-Author - Robert G. Lewis, PhD; Co-Author - Hayley M. Reynolds, BS; Co-Author - Eric Fredrickson, PhD; Co-Author - Kelsey Nicholson, BS; Co-Author - David Pattison, MS; Co-Author - Hunter Best, Ph.D.; Co-Author - Luca Brunelli, MD, PhD, FAAP; Co-Author - Mark Yandell, PhD; Co-Author - Gabor Marth, DSc; Co-Author - Aaron R. Quinlan, PhD; Co-Author - John C. Carey, MD; Co-Author - Martin Tristani-Firouzi, MD; Co-Author - Joshua L. Bonkowsky, MD;
Meta Tag
Bioinformatics
Clinical History
Genetic Testing
Genome sequencing
Genotype-Phenotype Correlations
Sequencing
Variant Detection
Co-Author Brian J. Shayota, MD, MPH
Co-Author Chelsea Solorzano, BSN, RN
Co-Author Rachel Palmquist, MS, CGC
Co-Author Steven E. Boyden, PhD
Co-Author Barry Moore, MS BS
Co-Author Thomas J. Nicholas
Co-Author Rong Mao, MD
Co-Author Pinar Bayrak-Toydemir
Co-Author Katherine Noble, PHD
Co-Author Andrew Farrell, PHD
Co-Author Edgar J. Hernandez, PhD
Co-Author Shawn Rynearson, BS
Co-Author Carson Holt, PHD
Co-Author Alistair N. Ward, MA, MSci, MS, PhD
Co-Author Najla Al-Sweel, PhD, DABMGG
Co-Author Jian M. Zhao, PhD
Co-Author Makenzie L. Fulmer, PhD
Co-Author Lucilla Pizzo, PhD
Co-Author Ting Wen, PHD, MBBS
Co-Author John M. O'Shea, PhD
Co-Author Robert G. Lewis, PhD
Co-Author Hayley M. Reynolds, BS
Co-Author Eric Fredrickson, PhD
Co-Author Kelsey Nicholson, BS
Co-Author David Pattison, MS
Co-Author Hunter Best, Ph.D.
Co-Author Luca Brunelli, MD, PhD, FAAP
Co-Author Mark Yandell, PhD
Co-Author Gabor Marth, DSc
Co-Author Aaron R. Quinlan, PhD
Co-Author John C. Carey, MD
Co-Author Martin Tristani-Firouzi, MD
Co-Author Joshua L. Bonkowsky, MD
Presenting Author Sabrina Malone Jenkins, MD
Keywords
Utah NeoSeq Project
rapid whole genome sequencing
Neonatal Intensive Care Unit
molecular diagnosis
treatment initiation
diagnostic rates
undiagnosed pathway
RNA sequencing
Long-read sequencing
Functional analysis

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