Data analysis and bioinformatics

Interpretation and clinical integration of clinical sequencing data

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Data analysis and bioinformatics

The importance of clinical interpretation

Genetic diseases affect millions of people worldwide, manifesting themselves in a multitude of ways and are often difficult to diagnose. Finding the genetic variant that causes the disease can be long and costly, delaying diagnosis and making it difficult to take informed decisions in establishing a prognosis or improving the patient‘s therapeutic options.

Depending on the genetic test performed, thousands of variants per patient can be detected (e.g., 1-1.5 million in WGS or >60,000 in WES), although in most cases, a single variant is usually the cause of the disease.

New sequencing technologies have enabled us to study areas of the genome that were difficult to analyse years ago. Although standardisation of the production of sequencing data in most human genetics laboratories is already a reality, making a correct clinical interpretation of the large amount of data obtained during sequencing to find variants related to the patient‘s disease is still a major challenge.

  • > 40 years experience in clinical data analysis
  • We rely on a multidisciplinary team
  • We adapt to your needs creating tailor made solutions
  • We aim for innovation and creativity

Incomplete processing of such information may lead to inconclusive or erroneous results. Providing clinically valid reports requires holistic integration of genetic data, patient symptoms, major international variant databases and scientific literature.

The importance of clinical interpretation

At Reference Laboratory Genetics, we have developed an ecosystem of bioinformatics tools that allow us to integrate and interpret sequencing data from a clinical perspective, thanks to the use of HPO terms and the fact that we have more than 40 years of experience in clinical interpretation.

We transform sequencing data into clinical reports

The use of the most advanced technologies and our experience have allowed us to develop our bioinformatics tools.

Sequencing

Increased coverage in fields of medical relevance

Raw data uploaded to RefLab Cloud®

Bioinformatics analysis

Generation of bam and vcf

More accurate alignments, fewer false positive

Detection and annotation of variants wit international databases

Variant filtering based on patient clinical presentation and HPO terms

RefLab Database®

Information based on samples analysed by Reference Laboratory

Reduction of VOUS in our reports

Clinical interpretation

Reliable, clinically valid and conclusive reports

Validated by clinical geneticists with >15 years of experience

The advantatges of our bioinformatics tools

Reliable and accurate variant detection thanks to our optimised tools for mass sequencing data analysis.

Variant filtering based on patient clinical presentation and HPO terms.

Reduction of VOUS in the most reliable reports and results thanks to RefLab Database®.

Bioinformatics support to our customers with RefLab® Cloud.

Maximum quality in our results: all our algorithms, software and equipment comply with the standards.

#Futureisdatadriven

We integrate and interpret sequencing data from a clinical perspective, thanks to the use of HPO terms and the fact that we have more than 40 years of experience in clinical interpretation.

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