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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Biomedical Informatics
2016
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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. |
format | Online Article Text |
id | pubmed-5237645 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Biomedical Informatics |
record_format | MEDLINE/PubMed |
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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