BIOINFORMATICS

Genefficiency NGS Variant Analysis Report

Genefficiency NGS Variant Analysis Report - Oxford Gene Technology

13 August 2013

Oxford Gene Technology

Oxford Gene Technology (OGT), a provider of innovative genetics research and biomarker solutions to advanced molecular medicine, has released a free-to-download demo version of its Genefficiency NGS Variant Analysis Report software. The interactive report efficiently manages the complete data analysis process for NGS workflows and delivers fully annotated data, allowing the identification of meaningful results in just a few simple mouse clicks.

The demo allows researchers to explore the easy-to-use features of the software with publicly-available sequence data from Tariq et al (2011)[1], which identified a novel candidate gene (SHROOM3) for heterotaxy, a severe form of congenital heart disease. In addition, the report offers rapid filtering options, built-in quality control metrics and the ability to retrospectively analyse the data with additional or new selection criteria.

On completion of all OGT Genefficiency NGS exome and targeted panel projects, customers receive their results pre-loaded into the Genefficiency NGS Variant Analysis Report, so that they can quickly and easily identify relevant data. Thousands of variations can be filtered within minutes to just a handful requiring further validation — with no requirement for additional bioinformatics resources.

Bespoke analysis is easily integrated into the reporting software, allowing variants to be filtered based on biological function or other tailored criteria, for the easy identification of the most significant regions of genetic variation relevant to each individual study. Furthermore, the readily accessible in-depth quality metrics provide confidence that the results are of the highest quality.

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[1] Tariq M, et al (2011). SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. Sep 21;12(9):R91. doi: 10.1186/gb-2011-12-9-r91.

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