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Central resources of variant discovery and annotation and its role in precision medicine
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 c...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10392146/ https://www.ncbi.nlm.nih.gov/pubmed/37551357 http://dx.doi.org/10.2478/abm-2022-0032 |
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author | Halim-Fikri, Hashim Syed-Hassan, Sharifah-Nany Rahayu-Karmilla Wan-Juhari, Wan-Khairunnisa Assyuhada, Mat Ghani Siti Nor Hernaningsih, Yetti Yusoff, Narazah Mohd Merican, Amir Feisal Zilfalil, Bin Alwi |
author_facet | Halim-Fikri, Hashim Syed-Hassan, Sharifah-Nany Rahayu-Karmilla Wan-Juhari, Wan-Khairunnisa Assyuhada, Mat Ghani Siti Nor Hernaningsih, Yetti Yusoff, Narazah Mohd Merican, Amir Feisal Zilfalil, Bin Alwi |
author_sort | Halim-Fikri, Hashim |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10392146 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Sciendo |
record_format | MEDLINE/PubMed |
spelling | pubmed-103921462023-08-07 Central resources of variant discovery and annotation and its role in precision medicine Halim-Fikri, Hashim Syed-Hassan, Sharifah-Nany Rahayu-Karmilla Wan-Juhari, Wan-Khairunnisa Assyuhada, Mat Ghani Siti Nor Hernaningsih, Yetti Yusoff, Narazah Mohd Merican, Amir Feisal Zilfalil, Bin Alwi Asian Biomed (Res Rev News) Mini Review 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. Sciendo 2023-08-01 /pmc/articles/PMC10392146/ /pubmed/37551357 http://dx.doi.org/10.2478/abm-2022-0032 Text en © 2023 Hashim Halim-Fikri et al., published by Sciendo https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License. |
spellingShingle | Mini Review Halim-Fikri, Hashim Syed-Hassan, Sharifah-Nany Rahayu-Karmilla Wan-Juhari, Wan-Khairunnisa Assyuhada, Mat Ghani Siti Nor Hernaningsih, Yetti Yusoff, Narazah Mohd Merican, Amir Feisal Zilfalil, Bin Alwi Central resources of variant discovery and annotation and its role in precision medicine |
title | Central resources of variant discovery and annotation and its role in precision medicine |
title_full | Central resources of variant discovery and annotation and its role in precision medicine |
title_fullStr | Central resources of variant discovery and annotation and its role in precision medicine |
title_full_unstemmed | Central resources of variant discovery and annotation and its role in precision medicine |
title_short | Central resources of variant discovery and annotation and its role in precision medicine |
title_sort | central resources of variant discovery and annotation and its role in precision medicine |
topic | Mini Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10392146/ https://www.ncbi.nlm.nih.gov/pubmed/37551357 http://dx.doi.org/10.2478/abm-2022-0032 |
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