Molecular classification of blood and bleeding disorder genes

Abstract 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...

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Autores principales:	Batoul Baz, Mohamed Abouelhoda, Tarek Owaidah, Majed Dasouki, Dorota Monies, Nada Al Tassan
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/a10b22ba04204f3c8829f8c4607f8c77
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spelling	oai:doaj.org-article:a10b22ba04204f3c8829f8c4607f8c772021-12-02T16:08:17ZMolecular classification of blood and bleeding disorder genes10.1038/s41525-021-00228-22056-7944https://doaj.org/article/a10b22ba04204f3c8829f8c4607f8c772021-07-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00228-2https://doaj.org/toc/2056-7944Abstract 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.Batoul BazMohamed AbouelhodaTarek OwaidahMajed DasoukiDorota MoniesNada Al TassanNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Batoul Baz Mohamed Abouelhoda Tarek Owaidah Majed Dasouki Dorota Monies Nada Al Tassan Molecular classification of blood and bleeding disorder genes
description	Abstract 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	article
author	Batoul Baz Mohamed Abouelhoda Tarek Owaidah Majed Dasouki Dorota Monies Nada Al Tassan
author_facet	Batoul Baz Mohamed Abouelhoda Tarek Owaidah Majed Dasouki Dorota Monies Nada Al Tassan
author_sort	Batoul Baz
title	Molecular classification of blood and bleeding disorder genes
title_short	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_sort	molecular classification of blood and bleeding disorder genes
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a10b22ba04204f3c8829f8c4607f8c77
work_keys_str_mv	AT batoulbaz molecularclassificationofbloodandbleedingdisordergenes AT mohamedabouelhoda molecularclassificationofbloodandbleedingdisordergenes AT tarekowaidah molecularclassificationofbloodandbleedingdisordergenes AT majeddasouki molecularclassificationofbloodandbleedingdisordergenes AT dorotamonies molecularclassificationofbloodandbleedingdisordergenes AT nadaaltassan molecularclassificationofbloodandbleedingdisordergenes
_version_	1718384547674980352

Molecular classification of blood and bleeding disorder genes

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