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Bioinformatics (Clinically Relevant Databases) L9
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Question:
What are the Goals of ClinGen?
Author: Shay 1vccAnswer:
To raise the quality of patient care by: • Standardizing the annotation and interpretation of genomic variants • Sharing variant and case level data through a centralized database for clinical and research use • Developing machine-learning algorithms to improve the throughput of variant interpretation • Implementing an evidence-based expert consensus process for curating genes and variants • Assessing the actionability of genes and variants and supporting their use in clinical care systems
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