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Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly observed in human males. It is a genetic disorder affecting the red blood cells. The diagnosis of G6PD is usually based on blood analysis and there is no specific molecular or genetic test. The complete gene sequence of G6PD is known fo...

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Autor principal: Bogari, Neda M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Biomedical Informatics 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5237645/
https://www.ncbi.nlm.nih.gov/pubmed/28104958
http://dx.doi.org/10.6026/97320630012041
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author Bogari, Neda M.
author_facet Bogari, Neda M.
author_sort Bogari, Neda M.
collection PubMed
description Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly observed in human males. It is a genetic disorder affecting the red blood cells. The diagnosis of G6PD is usually based on blood analysis and there is no specific molecular or genetic test. The complete gene sequence of G6PD is known for different ethnicities. Known single nucleotide polymorphism (SNP) associated with G6PD is available in the public databases. Hence, robust, fast and efficient sequencing of G6PD is critical in disease diagnosis. The application of next generation sequencing (NGS) with its high reliability is useful in G6PD diagnosis.
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spelling pubmed-52376452017-01-19 Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies Bogari, Neda M. Bioinformation Views Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly observed in human males. It is a genetic disorder affecting the red blood cells. The diagnosis of G6PD is usually based on blood analysis and there is no specific molecular or genetic test. The complete gene sequence of G6PD is known for different ethnicities. Known single nucleotide polymorphism (SNP) associated with G6PD is available in the public databases. Hence, robust, fast and efficient sequencing of G6PD is critical in disease diagnosis. The application of next generation sequencing (NGS) with its high reliability is useful in G6PD diagnosis. Biomedical Informatics 2016-04-10 /pmc/articles/PMC5237645/ /pubmed/28104958 http://dx.doi.org/10.6026/97320630012041 Text en © 2016 Biomedical Informatics This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.
spellingShingle Views
Bogari, Neda M.
Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies
title Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies
title_full Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies
title_fullStr Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies
title_full_unstemmed Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies
title_short Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies
title_sort next generation sequencing (ngs) in glucose-6-phosphate dehydrogenase (g6pd) deficiency studies
topic Views
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5237645/
https://www.ncbi.nlm.nih.gov/pubmed/28104958
http://dx.doi.org/10.6026/97320630012041
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