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New approaches to predict the effect of co-occurring variants on protein characteristics
Authors:David Holcomb  Nobuko Hamasaki-Katagiri  Kyle Laurie  Upendra Katneni  Jacob Kames  Aikaterini Alexaki  Haim Bar  Chava Kimchi-Sarfaty
Affiliation:1. Division of Plasma Protein Therapeutics, Office of Tissue and Advanced Therapies, Center for Biologics Evaluation and Research, Food and Drug Administration, Silver Spring, MD 20993, USA;2. Department of Statistics, University of Connecticut, Storrs, CT 06268, USA
Abstract:
Keywords:single nucleotide variant  SNV  effect of co-occurring genetic variants  pathogenicity and protein effectiveness  prediction tool  datasets of monogenic diseases  synonymous variants  cooperative and antagonistic effects
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