Exome Sequencing
The human exome contains about 180,000 exomes (~30 Mb) arrayed in about 22,000 genes and it represents less than 2% of the human genome, but contains ~85% of known disease-causing variants. The exome sequencing, is an alternative to whole-genome sequencing due the costs, efficiency and the easier interpretability of much lower data volume compared to whole genome sequencing. With exome sequencing, you can investigate the protein coding regions of the genome when sequencing an entire genome is not practical or necessary. The goal of this approach is to identify the functional variants across a wide range of applications, including population genetics, genetic disease and cancer studies.
Our service performs exome sequencing with NextSeq 550 (Illumina), that is a efficient and fast approach and offers a comprehensive exome sequencing solutions, from library preparation to data analysis. We offer different ways for exome capture that use transposons and optimized hybridization steps to simplify and shorten the protocol from several days to just a day and a half.
Our service includes:
- Sample QC (Bioanalizer and Picogreen/Qubit cuantification)
- Exome capture
- Library preparation
- High-throughput sequencing
- Bioinformatics analysis
- Customer data report
Sequencing Platform: Illumina NextSeq 550.
