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Marilyn Li

Marilyn Li

Vice Chief of the Division of Genomic Diagnostics, The Children's Hospital of Philadelphia
Marilyn M. Li, M.D. is a Professor of Pathology and Laboratory Medicine, Professor of Pediatrics, Associate Chair for Diversity, Equity, and Inclusion, Vice Chief of the Division of Genomic Diagnostics, Director of Cancer Genomic Diagnostics at Children's Hospital of Philadelphia, University of Pennsylvania, Perelman School of Medicine. Dr. Li holds the American Board of Medical Genetics and Genomics certification in Clinical Cytogenetics and Clinical Molecular Genetics. She is a fellow of ACMG, AMP, ASHG, and ASCO. She was a member of the ACMG Professional Practice & Guideline Committee, the Chair of the AMP Somatic Variant Interpretation Workgroup, and the co-chair of ClinGen Cancer Variant Interpretation. Dr. Li's primary research interest is the clinical application of advanced and high throughput technologies including microarray and next-generation sequencing (NGS) in conjunction with modern bioinformatics tools in cancer research and clinical diagnosis to facilitate precision cancer care. Her group has studied thousands of cancers using multi-omics approaches including custom-designed cancer-specific arrays, NGS panels, and cancer exomes/genome/transcriptome/methylome/circulome sequencing. Their experience demonstrated that these state-of-the-art technologies uncover multi-dimensional alterations in cancer that are essential for cancer diagnosis, risk stratification, and therapeutic selection. She initiated, organized, and is the first president of the Cancer Genomics Consortium (CGC). She is the recipient of the 2010-2011 Luminex/ACMGF Award for the promotion of safe and effective genetic testing and services, the Visionary Leadership Award of CGC in 2019, and the Excellence in Genetics Service Award by the ACGA in 2021. She has published over 100 peer-reviewed articles and has given more than 100 invited presentations and grand rounds nationally and worldwide. She is an active member of the medical school and is involved in teaching medical students and Ph.D. students and training residents and fellows.

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