Exploring the implications of INDELs in neuropsychiatric genetics: challenges and perspectives.

Journal of Molecular Neuroscience : MN
R R LemosJ R M Oliveira

Abstract

The decade passed after publishing the Human Genome first draft faced an enormous growth at the understanding of the genomic variation among different subjects, populations, and groups of patients. Single nucleotide polymorphisms (SNPs) and insertion or deletions (INDELs) have been increasingly recognized as a major type of genetic variations, with potential impact in protein activities and gene expression changes observed in complex genetic traits, like neuropsychiatric diseases. INDELs represent the second most common class of variations after SNPs, but there is still an important gap between the number of INDELs reported and the actual knowledge about the functional implications of such variations. There are approximately 10 million SNPs already reported, and the human populations are expected to collectively harbor at least 1.6-2.5 million INDELs. One of the major challenges is to find better platforms to screen for INDELs in a high throughput manner. The discordance in between the data from different studies might be explained by the diverse approaches employed to sequence the genomes with variable platforms. Short INDEL variations increased the scope of genetic markers in human genetic diseases, and various studies showed...Continue Reading

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Citations

Feb 1, 2013·TheScientificWorldJournal·Marisa P Dolled-FilhartJimmy Cheng-Ho Lin

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