<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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.</p>
</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.

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

Malaysian Node of the Human Variome Project, School of Medical Sciences

Human Genome Centre, School of Medical Sciences

Faculty of Medicine Universitas Airlangga

Institute of Biological Sciences, Faculty of Science

Center of Research for Computational Sciences and Informatics in Biology, Bio Industry, Environment, Agriculture and Healthcare (CRYSTAL)

Asian Biomedicine

This work is licensed under the Creative Commons Attribution 4.0 International License.

Rapid technological advancement in high-throughput genomics, microarray, and deep sequencing technologies has accelerated the possibility of more complex...

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

Article Category: Mini review

Data publikacji: 01 sie 2023

Zakres stron: 285 - 298

DOI: https://doi.org/10.2478/abm-2022-0032

Słowa kluczowe
annotation, discovery, precision medicine, resources, variant

© 2023 Hashim Halim-Fikri et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

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

Article Category: Mini review

Data publikacji: 01 sie 2023

Zakres stron: 285 - 298

DOI: https://doi.org/10.2478/abm-2022-0032

Słowa kluczoweannotation, discovery, precision medicine, resources, variant

© 2023 Hashim Halim-Fikri et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Słowa kluczowe
annotation, discovery, precision medicine, resources, variant