P665: Recommendations for the improvement of diagnostic yields in rare disease cases through the integration of structural variants into analytical pipelines

• Thomas Nicholas,
• Andrew Farrell,
• Shawn Rynearson,
• Carson Holt,
• Steven Boyden,
• Barry Moore,
• Najla Al-Sweel,
• Christine Miller,
• Lucilla Pizzo,
• Chelsea Solorzano,
• Rachel Palmquist,
• Ashley Andrews,
• Rong Mao,
• Pinar Bayrak-Toydemir,
• Eric Fredrickson,
• Katherine Noble,
• Brian Shayota,
• Joshua Bonkowsky,
• John Carey,
• Sabrina Malone-Jenkins,
• Lorenzo Botto,
• Aaron Quinlan

Affiliations

Thomas Nicholas

Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT

Andrew Farrell

Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT

Shawn Rynearson

Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT

Carson Holt

Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT

Steven Boyden

Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT

Barry Moore

Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT

Najla Al-Sweel

ARUP Laboratories, Salt Lake City, UT

Christine Miller

ARUP Laboratories, Salt Lake City, UT

Lucilla Pizzo

ARUP Laboratories, Salt Lake City, UT

Chelsea Solorzano

Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Rachel Palmquist

Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Ashley Andrews

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Rong Mao

ARUP Laboratories, Salt Lake City, UT

Pinar Bayrak-Toydemir

ARUP Laboratories, Salt Lake City, UT

Eric Fredrickson

ARUP Laboratories, Salt Lake City, UT

Katherine Noble

ARUP Laboratories, Salt Lake City, UT

Brian Shayota

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Joshua Bonkowsky

Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

John Carey

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Sabrina Malone-Jenkins

Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Lorenzo Botto

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT

Aaron Quinlan

Department of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UT