P070: Discerning the meaning of cancer predisposition variants in a pediatric cancer cohort

by Erica Macke, Kathleen Schieffer, Mariam Mathew, Marco Leung, Yassmine Akkari, Melanie Babcock, Ying-Chen Claire Hou, Liana Hernandez, Jordan Olberding, Prasad Kopparapu, Vijayakumar Jayaraman, Don Corsmeier, Jessica Howard, Douglas Depoorter, Kristin Zajo, Peter White, Benjamin Kelly, Richard Wilson, Elaine Mardis, Catherine Cottrell
Published 2023-01-01

O13: Clinical validation of copy number alteration using paired tumor-normal exome sequencing: Challenges and successes*

by Kathleen Schieffer, David Gordon, Gregory Wheeler, Grant Lammi, Don Corsmeier, Douglas Depoorter, Liana Hernandez, Jessica Howard, Vijayakumar Jayaraman, Prasad Kopparapu, Jordan Olberding, Melanie Babcock, Ying-Chen Claire Hou, Marco Leung, Mariam Mathew, Yassmine Akkari, Peter White, Richard Wilson, Elaine Mardis, Catherine Cottrell
Published 2023-01-01

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing

by Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying‐Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung
Published 2024-03-01

P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows

by Wesley Goar, Kori Kuzma, Kathryn Stahl, Kyle Voytovich, Mariam Mathew, Erica Macke, Melanie Babcock, Ying-Chen Claire Hou, Liana Hernandez, Jordan Olberding, Prasad Kopparapu, Vijayakumar Jayaraman, Don Corsmeier, Jessica Howard, Douglas Depoorter, Ashley Kubatko, Grant Lammi, Marco Leung, Kathleen Schieffer, Yassmine Akkari, Elaine Mardis, Peter White, Catherine Cottrell, Alex Wagner
Published 2023-01-01