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Molecular classification of blood and bleeding disorder genes
The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing decision making in designing national screening, prevention programs, and molecular diagnostic tests. The accumulation of molecular data from dif...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8285395/ https://www.ncbi.nlm.nih.gov/pubmed/34272389 http://dx.doi.org/10.1038/s41525-021-00228-2 |
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author | Baz, Batoul Abouelhoda, Mohamed Owaidah, Tarek Dasouki, Majed Monies, Dorota Al Tassan, Nada |
author_facet | Baz, Batoul Abouelhoda, Mohamed Owaidah, Tarek Dasouki, Majed Monies, Dorota Al Tassan, Nada |
author_sort | Baz, Batoul |
collection | PubMed |
description | The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing decision making in designing national screening, prevention programs, and molecular diagnostic tests. The accumulation of molecular data from different populations widen the scope of utilization of this information. Bleeding disorders are a heterogeneous group of clinically overlapping disorders. We analyzed the targeted sequencing data from ~1285 Saudi individuals in 17 blood and bleeding disorders genes, to determine the frequency of mutations and variants. We used a replication set of ~5000 local exomes to validate pathogenicity and determine allele frequencies. We identified a total of 821 variants, of these 98 were listed in HGMD as disease related variants and 140 were novel variants. The majority of variants were present in VWF, followed by F5, F8, and G6PD genes, while FGG, FGB, and HBA1 had the lowest number of variants. Our analysis generated a priority list of genes, mutations and novel variants. This data will have an impact on informing decisions for screening and prevention programs and in management of vulnerable patients admitted to emergency, surgery, or interventions with bleeding side effects. |
format | Online Article Text |
id | pubmed-8285395 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-82853952021-07-23 Molecular classification of blood and bleeding disorder genes Baz, Batoul Abouelhoda, Mohamed Owaidah, Tarek Dasouki, Majed Monies, Dorota Al Tassan, Nada NPJ Genom Med Article The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing decision making in designing national screening, prevention programs, and molecular diagnostic tests. The accumulation of molecular data from different populations widen the scope of utilization of this information. Bleeding disorders are a heterogeneous group of clinically overlapping disorders. We analyzed the targeted sequencing data from ~1285 Saudi individuals in 17 blood and bleeding disorders genes, to determine the frequency of mutations and variants. We used a replication set of ~5000 local exomes to validate pathogenicity and determine allele frequencies. We identified a total of 821 variants, of these 98 were listed in HGMD as disease related variants and 140 were novel variants. The majority of variants were present in VWF, followed by F5, F8, and G6PD genes, while FGG, FGB, and HBA1 had the lowest number of variants. Our analysis generated a priority list of genes, mutations and novel variants. This data will have an impact on informing decisions for screening and prevention programs and in management of vulnerable patients admitted to emergency, surgery, or interventions with bleeding side effects. Nature Publishing Group UK 2021-07-16 /pmc/articles/PMC8285395/ /pubmed/34272389 http://dx.doi.org/10.1038/s41525-021-00228-2 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article Baz, Batoul Abouelhoda, Mohamed Owaidah, Tarek Dasouki, Majed Monies, Dorota Al Tassan, Nada Molecular classification of blood and bleeding disorder genes |
title | Molecular classification of blood and bleeding disorder genes |
title_full | Molecular classification of blood and bleeding disorder genes |
title_fullStr | Molecular classification of blood and bleeding disorder genes |
title_full_unstemmed | Molecular classification of blood and bleeding disorder genes |
title_short | Molecular classification of blood and bleeding disorder genes |
title_sort | molecular classification of blood and bleeding disorder genes |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8285395/ https://www.ncbi.nlm.nih.gov/pubmed/34272389 http://dx.doi.org/10.1038/s41525-021-00228-2 |
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