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Next Generation Sequencing Based Variant Analysis Platform

SEQ automates data transfer and back-up, organizes your data, performs detailed bioinformatics analysis and lets you access these in several different formats from any device connected to the internet.

Why Seq ?

• Variant calling, annotation and filtering with multiple standardized bioinformatics pipelines using different annotation versions


• Intuitive, multi-user online interface enabling sample sharing, sample comparison and data storage with long term backup guarantee


• Genotype frequency calculation within center and among all centers to eliminate false positives


• Pathogenicity analysis service with ACMG standards from our expert bioinformatics team


OrganIzatIonal
BIoInformatIcs
Data DrIven DIagnosIs
SecurIty And PrIvacy

OrganIzatIonal

SEQ is an organizational platform on the subject of genomic data management with features as storage, sharing and usage.

Online Multiple User Access

Access SEQ from every device that has an internet connection and perform your analyses with all users in your center.

User Friendly

SEQ is designed to maximize your user experience. You can easily use SEQ after a training from our experts in your own center.

Data Storage

Organize your results, enter clinical data and store your data for 3 years with SEQ.

Sample Sharing

Share the analysis results of your samples with your colleagues outside your center by a web link.

BIoInformatIcs

SEQ detects the differences of variants from the NGS reads. Access the computer-based predictions of the variant's effects on gene or protein. Interpret this data according to the general population frequencies and add clinical data. Compare the samples with each other.

Variant Calling and Annotation

Detect variations in your NGS reads from Illumina, Roche or Ion Torrent platforms, visualize with IGV and add notes to your variants.

Computational Prediction of Variant Effect

View variants’ scores of in silico algorithms such as Sift, PolyPhen and MutationTaster.

Variant Filtration

Filter your variants in terms of alternative allele frequencies, Clinvar results and/or in silico algorithm scores.

Sample Comparison

Compare your analyzed samples per variant, identify which variants are common in your samples and which are not.

Data DrIven DIagnosIs

Evaluate pathogenicity of variants by using population frequencies of variations detected with sequencing, clinical databases and genotype frequencies of variants.

Real Time Calculated Genotype Frequencies

Genotype frequencies of variants associated with their sequencing technology.

Population Databases

Observe the alternative allele frequencies from international studies such as 1000Genomes, ESP6500 and ExAC.

Genetic Variation and Disease Databases

Access to the links of variants in dbSNP and Clinvar databases.

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Security And Privacy

Your data is secured by Genomize in terms of privacy, integrity and availability. When processing and storing genetic data, Genomize applies the highest level of technical and organizational security measures against destruction, loss, alteration, unauthorized disclosure or access. You can also store and backup your data yourself.

ServIces

Our team is ready to provide you the fastest, most accurate and reliable solutions.
Bioinformatics Analysis Support

Use our Customer Support System for any problem you have. Your support request may be about a feature request, analysis request or a bug report. Our specialists will be automatically assigned to solve your problems in the shortest time possible. You can track your support requests from SEQ customer portal, you will also receive e-mails when status of your requests change.

Pathogenicity classification

One of the most important part of genetic diagnosis process is to accurately analyze the big data obtained from NGS and to determine variants’ pathogenicity classes without any error. While classifying pathogenicity of variants, SEQ uses the standards published by ACMG (American College of Medical Genetics) in February 2015. Pathogenicity categories of the variants are updated regularly as soon as a new publication comes out.

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Acknowledgements

As Genomize, we aim to add value to human genomics research and improve the future of healthcare. We are not alone on our journey to achieve this goal. We thank the institutions below for their valuable contribution in SEQ's improvement and advancement.