Genetic Testing

The development of sequencing techniques and genomic analysis has changed the deal to genetic diseases, allowing the identification of alterations involved in them. This information, together with family history, lifestyle habits or environmental factors, allows to know precisely the causes of a disease. Thus, once diagnosed it is possible to offer specific therapies for a individual genetic profile, avoiding non-effective treatments and possible adverse side effects to each patient. In addition, it allows to evaluate the hereditary predisposition to suffer a genetic disease and facilitate the enrollment in prevention and early diagnosis programs.

To guarantee the usefulness of of our services, it is necessary to know the needs of each client. Our team of experts offers a completely personalized advice, including scientific and technical solutions, to obtain quality results with the lowest economic investment.

We will carry out an exhaustive research, based on literature and databases to identify genes and / or genomics regions with scientific evidence in favor of their association with pathologies of interest.

Our collaboration with the most reliable sequencing providers allows us to select the most suitable platform for your project. The panel will be subjected to technical and clinical (if necessary) validations.

Analysis

DREAMgenics bioinformatics framework has been designed to easily adapt to client needs, intengrating algorithms, pipelines, databases, etc. The bioinformatic analysis includes:

  • – Preprocessing and quality control of the sequences.
  • De novo assembly (optional).
  • – Alignment of reads to reference sequences.
  • – Variant filtering and statistical quality controls.
  • – Detection of high quality variants (SVs, SNVs, CNVs)
  • – Filtering of population common variants.
  • – Variant annotation using multiple databases and prediction algorithms.
  • – Comparison between samples and extraction of recurrent variants.

Results

Our analyses identify high quality genomic variants through excellent sensitivity and specificity standards, extracting meaningful biological information and reducing validation process costs. The results will be delivered through a detailed report. In addtition, we offer the possibility of advanced visualization and interactive review of results through our exclusive genome one reports web application.

listado-variantes

Variants list

variantes-estructurales

SVs  and CNVs visualization

Bioinformatics analyses are performed with our genome one software, which accomplishs the necessary requirements regarding the CE-IVD marking and UNE-EN ISO 13485:2016.

To guarantee the usefulness of of our services, it is necessary to know the needs of each client. Our team of experts offers a completely personalized advice, including scientific and technical solutions, to obtain quality results with the lowest economic investment.

We will carry out an exhaustive research, based on literature and databases to identify genes and / or genomics regions with scientific evidence in favor of their association with pathologies of interest.

Our collaboration with the most reliable sequencing providers allows us to select the most suitable platform for your project. The panel will be subjected to technical and clinical (if necessary) validations.

Analysis

DREAMgenics bioinformatics framework has been designed to easily adapt to client needs, intengrating algorithms, pipelines, databases, etc. The bioinformatic analysis includes:

  • – Preprocessing and quality control of the sequences.
  • De novo assembly (optional).
  • – Alignment of reads to reference sequences.
  • – Variant filtering and statistical quality controls.
  • – Detection of high quality variants (SVs, SNVs, CNVs)
  • – Filtering of population common variants.
  • – Variant annotation using multiple databases and prediction algorithms.
  • – Comparison between samples and extraction of recurrent variants.

Results

Our analyses identify high quality genomic variants through excellent sensitivity and specificity standards, extracting meaningful biological information and reducing validation process costs. The results will be delivered through a detailed report. In addtition, we offer the possibility of advanced visualization and interactive review of results through our exclusive genome one reports web application.

listado-variantes

Variants list

variantes-estructurales

SVs  and CNVs visualization

Bioinformatics analyses are performed with our genome one software, which accomplishs the necessary requirements regarding the CE-IVD marking and UNE-EN ISO 13485:2016.