Metagenome is all the genetic material present in an environmental sample. For example, multiples microenvironments within the human body or different layers of the ocean. The main objective of Metagenomics is the identification of the organisms presents in a sample and characterization of their roles in specific environment. In a metagenomic sequence, you can get a complete view about diversity and metabolic profile of a specific environment.
High performance sequencing systems allow to sequence complete genomes, regardless of their size, from bacteria and viruses to complex genomes. It is possible to make de novo assembly to decode genomes previously unknown, or re-sequence genomes from organisms with reference genome. Precise notes of the all genes are taken and SNPs, insertions, investments and structural reorderings of any size can also be analyzed.
The RNA sequencing has revolutioned the studies of gene expression. At the same time, the sequencing of the transcriptome is a quick and reliable method used to identify genomic information in organisms with or without reference genomes. It is possible to carry out a solid analysis of the transcriptome that includes the identification and quantification of common and minority transcripts (mRNA of full length and EST), the discovery of new genes and splicing sites and the identification of isoforms and SNP.
High throughput sequencing technology has allowed the realization of a great number of genomic studies that have an impact on what we know about human healthcare and disease diagnosis.
Next generation sequencing technologies turn out to be very useful for the discovery, validation and evaluation of molecular markers in settlements. There are different methodologies that can be applied either to model organisms with reference genomes of high quality or to species that lack of genomic data.
Targeted resequencing allows isolation of genomic regions of interest in a library.This is done by simple PCR products as well as using strategies to capture regions of up to 50Mb by molecular hybridization.The isolation of regions of interest and its later sequencing, allows the systematic identification of common and rare mutations at a lower cost per sample and targeted specifically to a particular region.
Available from the second quarter of 2013.
- Variant Calling (SNPs and Indels).
- Annotation and comparative analyses.
- Variant report, processed and annotated VCF file (Variant Call Format).
- Report recommended by the American College of Medical Genetics and Genomics (ACMG), of mutations found in genes associated with diseases.
Available from the second quarter of 2014.