Central resources of variant discovery and annotation and its role in precision medicine.

🤖 Plain-English Summary

Rapid technological advancement in high-throughput genomics, microarray, and deep sequencing technologies has accelerated the possibility of more complex precision medicine research using large amounts of heterogeneous health-related data from patients, including genomic variants. Various efforts toward precision medicine have been facilitated by many national and international public databases that classify and annotate genomic variation.

🔑 Key Findings

• Genomic variants can be identified and annotated based on the reference human genome either within the sequence as a whole or in a putative functional genomic element.
• The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) mutually created standards and guidelines for the appraisal of proof to expand consistency and straightforwardness in clinical variation interpretations.
• Various efforts toward precision medicine have been facilitated by many national and international public databases that classify and annotate genomic variation.

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