Genomic analysis
Relevant clinical information
Bioinformatics analysis
Deciphering DNA information
The analysis of massive sequencing data is a complex process that requires a high level of bioinformatics knowledge and large processing and storage resources.
Quality control of the sequences.
Alignment of the reads to the reference genome.
High-quality variant detection (SNVs, Indels, and CNVs).*
Screening for common variants in the population.
Annotation of variants obtained with multiple databases and prediction algorithms.
Comparison between samples and extraction of recurrent variants.
Bioinformatics Services
RESULTS IN GENOME ONE REPORTS
Review and organize your variants the way you want
Your genomic results, on Genome One Reports: a simple and intuitive web platform designed to help you get the most out of them.
Video Quality
Access to quality analyses of the obtained sequences.
Customizable filters
Set up custom variant filters.
Variant Preclassification
Pre-classify the variants according to the pathogenicity criteria you choose.
In-house databases
Create them by reviewing variants or running analyses again.
Custom Reports
Generate customized reports with the results of your analysis.
AVAILABLE OPTIONS
A service tailored to your needs
Depending on the initial sample and the analysis you wish to perform, different libraries can be used. Contact us, and we'll help you choose the best option.
Exome
Recommended- DNBSEQ™-G400 Platform (IVD)
- MagnisDx Library Robot (IVD)
- Agilent SureSelect V8/CRE V4 Library
- Mean coverage >100x
- >1 µg of genomic DNA
- 12–14 Gb/sample
- Analysis of SNVs, Indels and CNVs*.
- Results in Genome One Reports
Genome
- DNBSEQ™-G400 Platform (IVD)
- MGISP-960 Library Robot (IVD)
- MGIEasy Fast PCR-FREE FS Library V2.0
- Mean coverage >30x
- >1 µg of genomic DNA
- 90 Gb/sample
- Analysis of SNVs, Indels and CNVs*.
- Results in Genome One Reports
*Where the experimental design and coverage allow.
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Centers and Institutions
Hospitals, universities, and research institutes in Europe and Latin America.
Shall we talk about your genomics project?
We'll help you design your sequencing experiment and interpret the genomic results. Let us know what you need.