Email updates

Keep up to date with the latest news and content from BMC Research Notes and BioMed Central.

Open Access Technical Note

GenomeGems: evaluation of genetic variability from deep sequencing data

Sharon Ben-Zvi12, Adi Givati12 and Noam Shomron2*

Author Affiliations

1 Department of Biomedical Engineering, The Iby and Aladar Fleischman Faculty of Engineering, Tel-Aviv University, Tel Aviv, Israel

2 Department of Cell and Developmental Biology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel

For all author emails, please log on.

BMC Research Notes 2012, 5:338  doi:10.1186/1756-0500-5-338

Published: 2 July 2012

Abstract

Background

Detection of disease-causing mutations using Deep Sequencing technologies possesses great challenges. In particular, organizing the great amount of sequences generated so that mutations, which might possibly be biologically relevant, are easily identified is a difficult task. Yet, for this assignment only limited automatic accessible tools exist.

Findings

We developed GenomeGems to gap this need by enabling the user to view and compare Single Nucleotide Polymorphisms (SNPs) from multiple datasets and to load the data onto the UCSC Genome Browser for an expanded and familiar visualization. As such, via automatic, clear and accessible presentation of processed Deep Sequencing data, our tool aims to facilitate ranking of genomic SNP calling. GenomeGems runs on a local Personal Computer (PC) and is freely available at http://www.tau.ac.il/~nshomron/GenomeGems webcite.

Conclusions

GenomeGems enables researchers to identify potential disease-causing SNPs in an efficient manner. This enables rapid turnover of information and leads to further experimental SNP validation. The tool allows the user to compare and visualize SNPs from multiple experiments and to easily load SNP data onto the UCSC Genome browser for further detailed information.

Keywords:
Deep sequencing; Next generation sequencing; Software; Genetic analysis; Data interpretation; Variance calling