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

Abstract

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. 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. In the present study, several resources are highlighted with recognition and data spreading of clinically important genetic variations.

Integrated Whole Exome and Transcriptome Sequencing in Cholesterol Metabolism in Melanoma: Systematic Review

“…The process of variant annotation typically encompasses the inclusion of data pertaining to genomic coordinates, gene positioning, and the specific type of mutation.Numerous investigations primarily center on the non-synonymous single nucleotide variants (SNVs) and insertions/deletions (indels) occurring within the exome. These genetic alterations constitute approximately 85% of identified pathogenic mutations associated with Mendelian disorders, as well as a substantial proportion of mutations implicated in complex diseases[70].In addition to the fundamental process of annotation, numerous databases exist that offer supplementary information pertaining to genetic variants. ANNOVAR is a software tool that effectively integrates an extensive compilation of over4,000 publicly accessible databases.…”