Article: Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Archives of medical science : AMS
2021 Volume 19, Issue 3, Page(s) 765–783
Abstract: More than 25 million DNA variations have been discovered as novel including major alleles from the Arab population. Exome studies on the Saudi genome discovered > 3000 novel nucleotide variants associated with > 1200 rare genetic disorders. ... ...
Abstract | More than 25 million DNA variations have been discovered as novel including major alleles from the Arab population. Exome studies on the Saudi genome discovered > 3000 novel nucleotide variants associated with > 1200 rare genetic disorders. Reclassification of many pathogenic variants in the Human Gene Mutation Database and ClinVar Database as benign through the Arab database facilitates building a detailed and comprehensive map of the human morbid genome. Intellectual disability comes first with the combined and observed carrier frequency of 0.06779 among Saudi Arabians; retinal dystrophy is the next highest. Genome studies have discovered interesting novel candidate disease marker variations in many genes from consanguineous families. More than 7 pathogenic variants in the |
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Language | English |
Publishing date | 2021-12-27 |
Publishing country | Poland |
Document type | Journal Article |
ZDB-ID | 2203781-0 |
ISSN | 1734-1922 |
ISSN | 1734-1922 |
DOI | 10.5114/aoms/145370 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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