Genomic
We perform whole genome sequencing (human, plant, animal, bacterial…) with ultra-long reads from unmanipulated material. Depending on the genome of interest, the most suitable device can be selected for adequate coverage: MinION or GridION for small genomes and PromethION for larger genomes.
Advantages
- No sample manipulation.
- Generation of ultra-long readings.
What can be obtained
It allows the precise characterization of the breakpoint of structural variants, identification and characterization of complex variants not resolved using conventional methodology (retrotransposons, intronic structural variants, inversions, tandem repeats), detection of epigenetic modifications (methylation), determination of haplotypes through the study of phasing of the obtained long reads.
Target Region (PCR)
Sequencing of PCR products without the need for fragmentation, which allows a high depth analysis.
Advantages
- High-depth sequencing.
- Obtaining short or long sequences, depending on the length of the PCR.
- Possibility of multiplexing samples to reduce cost.
What can be obtained
Studies of biallelic mutations, analysis of low frequency SNPs (somatic, mosaic), obtaining haplotypes for the study of the origin of species, founder effect of certain mutations, or population studies. Another application of this service is the evaluation of CRISPR-Cas9 cleavage.
Target Region (Enrichment)
What can be obtained
Studies of biallelic mutations, analysis of low frequency SNPs (somatic, mosaic), obtaining haplotypes for the study of the origin of species, founder effect of certain mutations or population studies.
Real-time sequencing allows enrichment of sequencing to a genomic region of interest of 3 Mb, thus achieving greater depth of coverage in the desired region.
Advantages
If there is one or more regions or genes of interest, sequencing can be directed without manipulation of the DNA.
RNA
It directly sequence whole transcript reads using ultra-long reads of native RNA or cDNA without fragmentation or amplification.
Advantages
No RNA fragmentation or manipulation required
What can be obtained
- Characterization of complete transcripts, splicing variants or fusion genes.
- Detection of new undescribed isoforms.
- Study of epitranscriptomic modifications of native RNA.
- Identification of antisense transcripts and lncRNA isoforms.
Metagenomics 16S
What can be obtained
- Complete resolution of 16S and plasmids.
- Real-time identification of species, microbial resistance, and virulence factors.
Sequencing of 16S long reads allows accurate identification of closely related species, along with a full transcriptomic analysis of RNA from microbial samples. Rapid real-time sequencing enables identification, quantification and determination of microbial resistance.
Advantages
Cost-effective process. Comprehensive characterization of the phylogenetic tree of microbial species.
Denovo Assembly
Performing de novo genome assembly from short-reads (provided by the client) using a standard genomic sequencing library (see Genomic section) and a specific computational analysis pipeline. It is recommended for small genomes.
Advantages
Short reads are not able to form de novo assembly of the genome. Long reads can span complex and repetitive genomic regions.
What can be obtained
Sequencing of ultra-long reads enables the coverage of complete genomes.
Tandem Repeats
What can be obtained
- Allows for the determination of Tandem Repeat length.
- Definition of the exact sequence of the expansion.
The sequencing of long reads allows the identification of repetitive sequences of the genome such as tandem repeats, which in some cases can expand and lead to diseases as seen in certain neurodegenerative disorders. This sequencing can be performed through enrichment of the region of interest (via CRISPR or in silico) or through whole genome sequencing.
Advantages
Short reads (Sanger or NGS) are unable to cover complex and repetitive genomic regions, thus they may fail to identify tandem repeats in some cases.
An alternative method to detect these repeats is PCR, but it is highly limited since the polymerase can contract the expansion and hinder accurate detection of the extent. We have developed a specific computational pipeline for the characterization of more complex tandem repeats to detect them at a given chromosomal location.
Sample Processes
Prepare the sample
Carry out the common preparation process in your company.
Send your samples
Once they arrive, our laboratory will take care of the rest
Ready!
Download the results and analyze them
