3362 GENE2VAR "

Requirement

With the use of new generation DNA sequencing technologies and increasing the number of patients in the processes of genetic diagnosis and research projects, especially genetic diagnosis centers and medical genetic departments of hospitals, they face difficulties in rapid and objective (accurate / accurate) analysis of DNA sequencing data.

The difficulties faced by these institutions can be summarized as the problem of access to constantly updated information about the field, the lack of experienced, multidisciplinary experts, the weakness of parameter usage knowledge gained through experience, and the lack of necessary hardware and high capacity computers.

The way to overcome these difficulties for these institutions are user-friendly, ready-to-use software solutions where they can reach the clinical results with a single click in the process of analysis of genetic data, detection and interpretation of genetic variants.

Additionaly, bcl, the output format of new sequencing devices (Illumina NextSeq and Illumina HiSeq) designed to produce more data at one time, is not compatible with existing bioinformatics tools or the input format of third-party analysis programs. Therefore, the available data should be converted to the format (fastq) accepted by these software.

Solution

Gene2Var, an ""integrated"" bioinformatics analysis platform using systematically updated parameters and databases, using objective bioinformatics tools to achieve variant identification, based on sequenced raw DNA data.

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