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Genomics, ISSN 0888-7543, 08/2019
Whole Exome Sequencing (WES) utilises overlapping fragments prone to sequencing artefacts. Saliva, a non-invasive source of DNA, has been successfully used in... 
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 11/2019, Volume 21, Issue 6, pp. 951 - 960
In this article, we introduce the variant call format–diagnostic annotation and reporting tool (VCF-DART), a customized analysis pipeline tool for the rapid... 
Journal Article
BioMed Research International, ISSN 2314-6133, 2015, Volume 2015
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 05/2014, Volume 115, Issue 5, pp. 967 - 976
Journal Article
Journal of Clinical Laboratory Analysis, ISSN 0887-8013, 07/2016, Volume 30, Issue 4, pp. 335 - 344
Journal Article
Cell Metabolism, ISSN 1550-4131, 01/2015, Volume 21, Issue 1, pp. 81 - 94
Journal Article
Current Genomics, ISSN 1389-2029, 05/2013, Volume 14, Issue 3, pp. 182 - 194
Prior to the completion of the human genome project, the human genome was thought to have a greater number of genes as it seemed structurally and functionally... 
Alternative splicing
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, p. e0137255
Journal Article
Journal of human genetics, 11/2017
Primary open-angle glaucoma (POAG) is influenced by both genetic and environmental factors. Despite significant progress in identifying genetic variants... 
Journal Article
Current Genomics, ISSN 1389-2029, 05/2013, Volume 14, Issue 3, pp. 182 - 194
Prior to the completion of the human genome project, the human genome was thought to have a greater number of genes as it seemed structurally and functionally... 
Alternative splicing (AS) | Expressed sequence tags (ESTs) | Database | mRNA | Microarray | Bioinformatics | Protein | Splice variants | BIOCHEMISTRY & MOLECULAR BIOLOGY | TAU GENE | JUNCTION | MESSENGER-RNA | ANNOTATION | BCL-X | SEQUENCE | GENETICS & HEREDITY | GENOME-WIDE DETECTION | EXPRESSION | RNA-SEQ DATA
Journal Article
Brain, ISSN 0006-8950, 11/2019
Abstract The two-pore potassium channel, TRESK has been implicated in nociception and pain disorders. We have for the first time investigated TRESK function in... 
Journal Article
Journal Article
Briefings in functional genomics, ISSN 2041-2649, 05/2018, Volume 17, Issue 3, pp. 170 - 180
Executive function (EF) includes a range of decision-making and higher-order thinking processes. Although the genetic basis of EF has been studied and... 
Animals | Epigenesis, Genetic | Humans | Polymorphism, Single Nucleotide - genetics | Models, Animal | DNA Methylation - genetics | Executive Function - physiology
Journal Article