Genomic Analysis

Our genomic analysis include custom consulting service, from experimental design to data analysis and results interpretation.

Bioinformatics Analysis of Whole Genomes

It allows the determination of the complete DNA sequence of an organism’s genome in order to know all its variants. The bioinformatic analysis includes:

  • Quality control of the sequences
  • De novo assembly (optional)
  • Alignment of reads to reference sequences
  • Detection of quality variants (SNVs, translocations and CNVs)
  • Filtering of population common variants
  • Variant annotation using multiple databases and prediction algorithms
  • Comparison between samples and extraction of recurrent variants

Bioinformatics Analysis of Whole Exomes

It allows the determination of the sequence of all protein-coding regions (exons) of an organism’s genome. The bioinformatic analysis includes:

  • Quality control of the sequences
  • Alignment of reads to reference sequences
  • Detection of quality variants ((SNVs, translocations and CNVs)
  • Filtering of population common variants
  • Variant annotation using multiple databases and prediction algorithms
  • Comparison between samples and extraction of recurrent variants

Design and Bioinformatics Analysis of Gene Panels 

It allows to determine the sequence of a select set of genes or gene regions that have known or suspected associations with a disease or phenotype. The bioinformatic analysis includes:

  • Panel design (optional)
  • Quality control of the sequences
  • Alignment of reads to reference sequences
  • Detection of quality variants (SNVs, translocations and CNVs)
  • Filtering of population common variants
  • Variant annotation using multiple databases and prediction algorithms
  • Comparison between samples and extraction of recurrent variants

Bioinformatics Analysis of ChIP-Seq

ChIP-sequencing combines chromatin immunoprecipitation (ChIP) with NGS to identify protein interactions with DNA. The bioinformatic analysis includes:

  • Quality control of the sequences
  • Alignment of reads to reference sequences
  • Detection of transcription factors binding sites and identification of genes related to these sequences
  • Screening of known consensus sites and discovery of de novo consensus site
  • Differential enrichment between conditions

 Bioinformatics Analysis of ATAC-Seq

ATAC-seq is a technique used to assess genome-wide chromatin accessibility. The bioinformatic analysis includes:

  • Quality control of the sequences
  • Alignment of reads to reference sequences
  • Detection of transcription factors binding sites and identification of genes related to these sequences
  • Screening of known consensus sites and discovery of de novo consensus site
  • Differential enrichment between conditions

Bioinformatics Analysis of CNVs

It allows to know the variation in the number of copies (CNVs) of some regions with respect to the reference genome. The identification and characterization of CNVs is essential for the diagnosis of many genetic diseases and this knowledge can contribute to establish prognostic, prevention and treatment strategies.

In addition we can perform analysis of other Structural Variants:

  • Insertions
  • Inversions
  • Translocations
  • Transposable elements

Additional Bioinformatics Analysis 

In addition, we offer the possibility of:

  • Tumor/normal analysis
  • Trio/cohorts/pedigrees analysis
  • Integration with RNA-Seq analysis

Results

For the advanced review of results, a detailed report is delivered through our web application genome one reports. Data are shown in easily interpretable tables and graphs that can be exported in suitable formats for scientific publications.

Through genome one reports you will have access to:

  • Sequence quality analysis
  • Customizable variant filters
  • Pre-classification of variants according to pathogenicity criteria option
  • Own databases generated by reviewing variants or recurring analysis
  • Customized reports option

Genomic analysis

Our genomic analysis include custom consulting service, from experimental design to data analysis and results interpretation.

WGS

It allows the determination of the complete DNA sequence of an organism’s genome in order to know all its variants. The bioinformatic analysis includes:

  • Quality control of the sequences
  • De novo assembly (optional)
  • Alignment of reads to reference sequences
  • Detection of quality variants (SNVs, translocations and CNVs)
  • Filtering of population common variants
  • Variant annotation using multiple databases and prediction algorithms
  • Comparison between samples and extraction of recurrent variants

WES

It allows the determination of the sequence of all protein-coding regions (exons) of an organism’s genome. The bioinformatic analysis includes:

  • Quality control of the sequences
  • Alignment of reads to reference sequences
  • Detection of quality variants ((SNVs, translocations and CNVs)
  • Filtering of population common variants
  • Variant annotation using multiple databases and prediction algorithms
  • Comparison between samples and extraction of recurrent variants

Gene Panels 

It allows to determine the sequence of a select set of genes or gene regions that have known or suspected associations with a disease or phenotype. The bioinformatic analysis includes:

  • Panel design (optional)
  • Quality control of the sequences
  • Alignment of reads to reference sequences
  • Detection of quality variants (SNVs, translocations and CNVs)
  • Filtering of population common variants
  • Variant annotation using multiple databases and prediction algorithms
  • Comparison between samples and extraction of recurrent variants

ChIP-Seq

ChIP-sequencing combines chromatin immunoprecipitation (ChIP) with NGS to identify protein interactions with DNA. The bioinformatic analysis includes:

  • Quality control of the sequences
  • Alignment of reads to reference sequences
  • Detection of transcription factors binding sites and identification of genes related to these sequences
  • Screening of known consensus sites and discovery of de novo consensus site
  • Differential enrichment between conditions

ATAC-Seq

ATAC-seq is a technique used to assess genome-wide chromatin accessibility. The bioinformatic analysis includes:

  • Quality control of the sequences
  • Alignment of reads to reference sequences
  • Detection of transcription factors binding sites and identification of genes related to these sequences
  • Screening of known consensus sites and discovery of de novo consensus site
  • Differential enrichment between conditions

CNVs

It allows to know the variation in the number of copies (CNVs) of some regions with respect to the reference genome. The identification and characterization of CNVs is essential for the diagnosis of many genetic diseases and this knowledge can contribute to establish prognostic, prevention and treatment strategies.

In addition we can perform analysis of other Structural Variants:

  • Insertions
  • Inversions
  • Translocations
  • Transposable elements

Additional Bioinformatics Analysis 

In addition, we offer the possibility of:

  • Tumor/normal analysis
  • Trio/cohorts/pedigrees analysis
  • Integration with RNA-Seq analysis

Results

For the advanced review of results, a detailed report is delivered through our web application genome one reports. Data are shown in easily interpretable tables and graphs that can be exported in suitable formats for scientific publications.

Through genome one reports you will have access to:

  • Sequence quality analysis
  • Customizable variant filters
  • Pre-classification of variants according to pathogenicity criteria option
  • Own databases generated by reviewing variants or recurring analysis
  • Customized reports option

Any question?

We are at your complete disposal to resolve any questions you may have.

Please, get in touch via the attached form or call us at the following phone number.