NGS Services2019-02-11T10:14:23+01:00

NGS Services

NIMGenetics team of professionals has extensive experience with NGS, in both research and clinical spheres. We offer a complete sequencing service with the highest quality standards that is adapted to meet the needs of researchers, both in the processing of the sample, in the performance required for each study, and in the bioinformatic analysis.

NIMGenetics owns various state-of-the-art sequencing platforms, of which the NovaSeq 6000 sequencer (Illumina) in particular stands out, as it provides unprecedented power, flexibility, and performance. With this acquisition we offer our clients the latest technology available, shortening response times and providing a highly competitive price.

Whole Exomes Sequencing

The exome represents the whole set of exons in the genome and, although it constitutes only 1-2% of the genome, it is estimated to contain about 85% of all mutations responsible for genetic diseases. Human exome sequencing (WES) is a powerful tool for the identification of variants that cause, developmental disorders, neurological diseases, congenital metabolic disorders, hereditary blindness, infrequent familial cancer predisposition syndromes or deficiencies in the correct production of blood cells, among other conditions. Likewise, the WES study applied to populations enables, albeit in a limited manner for coding regions, genetic association studies to be carried out as part of research into complex hereditary diseases.

NIMGenetics adapts to the needs of the researcher thanks to the use of cutting-edge technology (NovaSeq 6000, Illumina) and its team, with extensive experience in sequencing and exome analysis, in both research and clinical spheres.

Characteristics and advantages:

  • High uniformity in the sequencing depth across all coding regions of the genome.
  • High sensitivity and specificity in variant detection.
  • High precision.

Bioinformatic analysis:
The bioinformatic pipeline developed by NIMGenetics provides fast, reliable and highly precise results. We use cutting-edge algorithms for quality control and the processing of readings, as well as for variant detection.

The researcher is able to choose the extent of the service provided according to their needs, both in terms of data format and degree of bioinformatic analysis.


  • Identification of functional genes, biomarkers, and drug target sites.
  • Variant detection in the whole exome.
  • Study of common and rare mutations.
  • Association of DNA variants with a trait, such as a disease.

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Whole Genomes Sequencing

Whole-genome sequencing (WGS) enables the identification of DNA biomarkers with great precision. These biomarkers include single nucleotide polymorphisms (SNPs), insertions and deletions (indels), structural variants (SV), and copy number variants (CNVs).

NIMGenetics is equipped with the innovative Illumina NovaSeq platform and a team with extensive experience, which enables a cost-effective WGS service with high data quality to be provided.

Bioinformatic analysis:
Our bioinformatic service includes data quality control, alignment with the reference genome, coverage statistics and sequencing depth, calling and variant annotation (SNP/InDel/SV/CNV), functional annotation of candidate genes, analysis of the enrichment process and more, depending on the service requested.

Characteristics and advantages:

  • High resolution and precision, differentiating variants on a single basis.
  • High coverage, enabling the study of low-frequency variants and mutations.
  • EData accuracy, thanks to strict quality controls across the entire process.
  • A wide range of species: from humans to plants, animals and microbial genomes.
  • Cost-effectiveness: the lowest possible prices for a genome of any size and complexity.


  • Identification of functional genes, biomarkers, and drug target sites.
  • Variant detection in the whole genome.
  • Study of common and rare mutations.
  • Association of DNA variants with a trait, such as a disease.
  • Comparative analysis at genomic level.

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Gene Panel Sequencing

Analysis aimed at groups (panels) of specific genes (TSA, Targeted Sequence Analysis) is considered the standard analysis of exome sequencing data. To achieve this, NIMGenetics makes available to the researcher the most advanced technology (NovaSeq 6000, Illumina), as well as its team, with extensive experience in sequencing and exome analysis, in both the research and clinical spheres.

For clinical use, NIMGenetics has designed more than 160 panels to identify all mutations previously associated with genetic disorders, as well as new variants in disease-associated genes. For a more detailed description, see the designs of Directed ExoNIM®.

Additionally, NIMGenetics offers the researcher the possibility of designing their own panels with ExoNIM®, as well as the advice they need for the experimental design.

Characteristics and advantages:

  • High resolution and precision: differentiation of variants on a single basis.
  • High coverage: identification of new variants and low-frequency mutations.
  • Accuracy: a strict quality control process to ensure the accuracy of data with minimal deviation.
  • Cost-effectiveness: the lowest possible price for sequencing aimed at any size and complexity.

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Transcriptome Sequencing / RNA-Seq

RNA-Seq is the first tool available for detecting the presence of RNA and its expression level by means of NGS. Additionally, it enables the detection of new genes structures, alternative splicing isoforms, gene fusions, SNPs, indels and the specific expression of alleles (ASE, allele-specific expression).

RNA-Seq provides better coverage and resolution of the dynamic nature of the transcriptome than microarrays, enabling the identification of new and unexpected transcripts. This is because, unlike microarrays, RNA-Seq does not require an a priori knowledge of the sequence, nor does it suffer the problems inherent to microarrays (cross-hybridisation and quantification of low expressivity genes).

Using the newest generation of sequencers (Illumina and Themo Fisher) and professionals with extensive experience in NGS, NIMGenetics offers complete RNA-Seq solutions that encompass experimental design, preparation of libraries, massive sequencing, and standardised or personalised bioinformatic analysis. All this considering various experimental approaches, depending on the needs of the researcher:

Bioinformatic analysis:
Our analysis includes the elimination of adapting sequences and low-quality readings, revision of sequencing data as total output, coverage and distribution of the genome, reading depth of low/medium/high expression transcripts, reference sequence mapping of the genome and transcripts (if any), identification of known mRNA, quantification and differential expression analysis of mRNAs, genetic ontology and KEGG enrichment analysis, prediction of new RNA, identification of alternative splicing variants and detection of indels and SNPs.

Characteristics and advantages:

  • High coverage and resolution
  • Multiple sequencing strategy options
  • A team of experts to advise the researcher on any aspect of the process
  • Highest quality results
  • Comprehensive data analysis
  • Cost-effective

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