Predicting variant classification by modeling the effects of functional and case study data in RUNX1 variants of uncertain significance
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Presenting Author - Mancy Shah, MSc; Co-Author - Winslow Johnson, MS; Co-Author - Lucy A. Godley, MD, PhD; Co-Author - David Wu, MD, PhD;
Meta Tag
Bioinformatics
Counseling
Exome sequencing
Genome sequencing
Methodology
Risk Assessment
Sequencing
Co-Author Winslow Johnson, MS
Co-Author Lucy A. Godley, MD, PhD
Co-Author David Wu, MD, PhD
Presenting Author Mancy Shah, MSc
Keywords
RUNX1 gene
variant classification
variants of uncertain significance
functional evidence
case study data
deep generative model
EVE
pathogenicity prediction
ACMG/AMP codes
reclassification

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