Genomic Analysis

Genomic Analysis

All our genomic analyses include personalised advice about experimental design, data analysis and interpretation of results. We can also assist you in the technical decisions of your project.

Genomes allow the determination of the complete DNA sequence of an organism in order to know all its variants.

 

Our bioinformatics analysis includes:

 

  • Sequence quality control.
  • Alignment of reads originated against reference sequences.
  • Detection of high quality variants (SNVs, translocations and CNVs).
  • Filtering of common variants in the population.
  • Annotation of variants obtained with multiple databases and prediction algorithms.
  • Comparison between samples and extraction of recurrent variants.

Exomes allow the determination of the sequence of the coding regions (exons) of all the genes of an organism.

 

Our bioinformatics analysis includes:

 

  • Sequence quality control.
  • Alignment of originated reads against reference sequences.
  • Detection of high quality variants (SNVs, translocations and CNVs).
  • Filtering of common variants in the population.
  • Annotation of variants obtained with multiple databases and prediction algorithms.
  • Comparison between samples and extraction of recurrent variants.

Gene panels allow us to know the sequence of a certain number of genes and/or regions of interest, which usually have clinical implications.

 

Our bioinformatics analysis includes:

 

  • Panel design (optional).
  • Sequence quality control.
  • Alignment of originated reads against reference sequences.
  • Detection of high quality variants (SNVs, translocations and CNVs).
  • Filtering of common variants in the population.
  • Annotation of variants obtained with multiple databases and prediction algorithms.
  • Comparison between samples and extraction of recurrent variants.

ChIP-Seq technology provides insight into protein-DNA interactions by combining NGS sequencing and chromatin immunoprecipitation (ChIP).

 

Our bioinformatics analysis includes:

 

  • Alignment of originated reads against reference sequence.
  • Statistical quality control of sequencing and alignment.
  • Detection of transcription factor binding sites, and identification of genes related to these sequences.
  • Screening of known consensus sites and discovery of de novo consensus sites.
  • Comparison between samples.
  • Generation of final report.

ATAC-Seq technology allows the mapping of chromatin accessibility across the entire genome.

 

Our bioinformatics analysis includes:

 

  • Alignment of originated reads against reference sequence.
  • Statistical quality control of sequencing and alignment.
  • Detection of transcription factor binding sites, and identification of genes related to these sequences.
  • Screening of known consensus sites and discovery of de novo consensus sites.
  • Comparison between samples.
  • Generation of final report.

It allows to know the Copy Number Variations (CNVs) of certain regions in comparison with a reference genome.

 

The identification and characterisation of CNVs is essential for the diagnosis of many genetic diseases and can facilitate the establishment of preventive and therapeutic strategies.

 

In addition, we can also analyse other structural variants:

 

  • Mobile elements.
  • Inversions.
  • Translocations.

We also offer the possibility of carrying out:

 

  • Analysis of somatic mutations in cancer.
  • Analysis of trios/cohorts/pedigrees.
  • Integration with RNA-Seq analysis.

Results visualisation

Results are delivered through our web platform Genome one Reports. Information is represented in interactive tables and graphs that can be easily interpreted and exported in formats suitable for use in scientific publications.

 

Through Genome one Reports you will have access to:

 

  • Quality analysis of the sequences obtained.
  • Configuration of customisable variant filters.
  • Possibility of pre-classification of variants according to pathogenicity criteria.
  • Own databases generated by variant revision or analysis recurrence.
  • Option to generate customised reports.

Example of visualisation of the results using our Genome one Reports platform.

Genomics is a cornerstone for correct diagnosis of genetic diseases

Massive sequencing technologies have enabled an unprecedented understanding of the human genome and its involvement in disease development. Increasingly, NGS-based studies are positioned as strong candidates to replace other genetic tests that, in many patients, do not lead to a conclusive diagnosis.

Genomics is key to the correct diagnosis of genetic diseases

Massive sequencing technologies have enabled an unprecedented understanding of the human genome and its involvement in disease development. Increasingly, NGS-based studies are positioned as strong candidates to replace other genetic tests that, in many patients, do not lead to a conclusive diagnosis.

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