Integration of RNA Sequencing Improves Hereditary Cancer Genetic Testing
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Presenting Author - Youbao Sha, PhD, FACMG; Co-Author - J. Bryce Ortiz, PhD; Co-Author - Kate Loranger, MS, CGC; Co-Author - Bryne Ulmschneider, PhD; Co-Author - Jeffrey N. Weitzel, MD; Co-Author - Wenbo Xu, MD, PhD, FACMG;
Meta Tag
Cancer Syndromes
Cell free DNA/cfDNA
Genetic Testing
NextGen Sequencing
Sequencing
Variant Detection
Co-Author J. Bryce Ortiz, PhD
Co-Author Kate Loranger, MS, CGC
Co-Author Bryne Ulmschneider, PhD
Co-Author Jeffrey N. Weitzel, MD
Co-Author Wenbo Xu, MD, PhD, FACMG
Presenting Author Youbao Sha, PhD, FACMG
Keywords
RNA sequencing
variants of uncertain significance
splicing
hereditary cancer genetic testing
retrospective analysis
likely pathogenic
not reportable
missense variants
intronic variants
synonymous variants

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