Dataset Information

Whole-genome single nucleotide variant distribution on genomic regions and its relationship to major depression.

ABSTRACT: Recent advances in DNA technologies have provided unprecedented opportunities for biological and medical research. In contrast to current popular genotyping platforms which identify specific variations, whole-genome sequencing (WGS) allows for the detection of all private mutations within an individual. Major depressive disorder (MDD) is a chronic condition with enormous medical, social and economic impacts. Genetic analysis, by identifying risk variants and thereby increasing our understanding of how MDD arises, could lead to improved prevention and the development of new and more effective treatments. Here we investigated the distributions of whole-genome single nucleotide variants (SNVs) on 12 different genomic regions for 25 human subjects using the symmetrised Kullback-Leibler divergence to measure the similarity between their SNV distributions. We performed cluster analysis for MDD patients and ethnically matched healthy controls. The results showed that Mexican-American controls grouped closer; in contrast depressed Mexican-American participants grouped away from their ethnically matched controls. This implies that whole-genome SNV distribution on the genomic regions may be related to major depression.

SUBMITTER: Yu C

PROVIDER: S-EPMC5730269 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Whole-genome single nucleotide variant distribution on genomic regions and its relationship to major depression.

Yu Chenglong C Baune Bernhard T BT Licinio Julio J Wong Ma-Li ML

Psychiatry research 20170220

Recent advances in DNA technologies have provided unprecedented opportunities for biological and medical research. In contrast to current popular genotyping platforms which identify specific variations, whole-genome sequencing (WGS) allows for the detection of all private mutations within an individual. Major depressive disorder (MDD) is a chronic condition with enormous medical, social and economic impacts. Genetic analysis, by identifying risk variants and thereby increasing our understanding ...[more]

PMID: 28258043

Similar Datasets

Project description:BackgroundA promising application of the huge amounts of genetic data currently available lies in developing a better understanding of complex diseases, such as cancer. Analysis of publicly available databases can help identify potential candidates for genes or mutations specifically related to the cancer phenotype. In spite of their huge potential to affect gene function, no systematic attention has been paid so far to the changes that occur in untranslated regions of mRNA.ResultsIn this study, we used Expressed Sequence Tag (EST) databases as a source for cancer-related sequence polymorphism discovery at the whole-genome level. Using a novel computational procedure, we focused on the identification of untranslated region (UTR)-localized non-coding Single Nucleotide Polymorphisms (UTR-SNPs) significantly associated with the tumoral state. To explore possible relationships between genetic mutation and phenotypic variation, bioinformatic tools were used to predict the potential impact of cancer-associated UTR-SNPs on mRNA secondary structure and UTR regulatory elements. We provide a comprehensive and unbiased description of cancer-associated UTR-SNPs that may be useful to define genotypic markers or to propose polymorphisms that can act to alter gene expression levels. Our results suggest that a fraction of cancer-associated UTR-SNPs may have functional consequences on mRNA stability and/or expression.ConclusionWe have undertaken a comprehensive effort to identify cancer-associated polymorphisms in untranslated regions of mRNA and to characterize putative functional UTR-SNPs. Alteration of translational control can change the expression of genes in tumor cells, causing an increase or decrease in the concentration of specific proteins. Through the description of testable candidates and the experimental validation of a number of UTR-SNPs discovered on the secreted protein acidic and rich in cysteine (SPARC) gene, this report illustrates the utility of a cross-talk between in silico transcriptomics and cancer genetics.

Dataset Information

Whole-genome single nucleotide variant distribution on genomic regions and its relationship to major depression.

Publications

Whole-genome single nucleotide variant distribution on genomic regions and its relationship to major depression.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets