WHAT IS DeepNGS

DeepNGS automates the workflow of gene analyses and can assist in diagnostic procedures.

In Next Generation Sequencing, the analysis of genomics data requires a standardised pipeline that will help clinicians and researchers obtain explicit and comprehensive information.

Achieve a higher level of accuracy by incorporating all the patient's genetic data in a secure, agile and easy-to-use platform. Capable of digesting information to ensure the accuracy of the final diagnosis and the adequacy of treatment recommendations*.

* The pathogenicity prediction and treatment recommendation functionalities will soon be available

What is DeepNGS What is DeepNGS What is DeepNGS What is DeepNGS What is DeepNGS

Main Features

Optimized NGS pipeline

Main Features
Main Features

Processing multiple
data sources and formats

Whole Genome & Exome/Targeted
Sequencing files

  • Raw sequencing data (FASTQ)
  • Genetic variant files (VCF)
  • Sequence alignment maps (SAM, BAM)
  • Annotated files (VEP)

Medical
records

  • Genetic databases
  • Patient histories
  • Phenotypic data

Different
sequence sources

  • Formalin-Fixed Paraffin-Embedded (FFPE) samples
  • Liquid biopsies/cfDNA (circulating free DNA)
  • Germline/hereditary diseases
  • Somatic abnormalities (tumor sequencing)

Detection of different
variant types and
mutations

  • Single Nucleotide
    Variants and INDELs
    (small insertions and deletions)

  • Large Structural
    Variants

  • Copy Number
    Variants

  • Genomic Fusions and
    Rearrangements

Automatic Analysis

Secondary and tertiary analysis of sequencing
samples without having to manually modify the parameters

Quality
Variant
Clinical interpretation

Intuitive design &
Interactive graphics

Technologies

Ask for a Demo / Pricing

We offer free access to a DeepNGS demo, with limited sample sizes.
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Standard Version

Standard pipeline of detection and interpretation of genetic variants

Detection of somatic variants, typical of tumour cells

Detection and basic analysis of structural variants

Basic annotations from main public information repositories

Links to external public databases with further information

Basic filtering tool to select values in multiple fields of the detected variant table

Export (PDF format) of the results obtained

Automated and secure data storage in Amazon AWS

Basic Machine Learning models to optimize specific stages of the pipeline

Up to
5 GB

$ 5

Up to
20 GB

$ 15

Up to
100 GB

$ 60

Advanced Version

Population frequencies based on massive sequencing experiments

Prediction of pathogenicity through standardized computational methods: SIFT, DANN, MetaSVM, etc.

Scores of conservation of the genomic position in which the nucleotide change occurs

Quality graphical metrics of SAM/BAM alignment files

Multi-sample analysis

Advanced algorithmic filters

Export of variant table in Excel format

Add comments to tables and reports, with your own personal conclusions to the results

Advanced analysis of structural variants and CNVs, with specific algorithms and charts

Detection of large-scale Fusions / Rearrangements

Expected early 2021

Premium Version

Links to external private databases, such as COSMIC or ICGC

linical classification of variants based on the criteria established by the ACMG/AMP

Prediction of pathogenicity through own computational methods and IA/ML algorithms

Analysis of genomic samples from different sequencing techniques, in addition to Illumina

Duo/trio analysis for the diagnosis of complex diseases in familiar cases

Analysis of complex samples: cfDNA, circulating free DNA, liquid biopsies, FFPE, etc.

Genomic browser to visualize the surrounding genomic region of each variant

Implementation of advanced algorithms and machine learning models to improve the results

Accurate detection of de novo variants


Expected mid to late 2021

About us

DeepNGS is developed by specialists in Genetics and Artificial Intelligence with more than 20 years of experience.

DeepNGS is a tool developed by DCSC in collaboration with AiR Institute and BISITE (Bioinformatics, Intelligent Systems and Educational Technology).

DCSC is a member of the IoT Digital Innovation Hub.

BISITE is a Research Group of the University of Salamanca and member of the Institute for Biomedical Research of Salamanca (IBSAL).

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