Whole Exome Sequencing

Whole Exome Sequencing for Research

The emergence of new next-generation sequencing technologies has allowed us to make the high-quality sequencing of the human exome available to research groups in the past years. Bioarray offers this key tool, for association studies and other genetic research studies.

By sequencing the exome, we are determining the exact sequences of the DNA in all the coding regions (which results in proteins) of the patient’s genome. Therefore, even though the exome approximately represents only 1% of the genome, it approximately contains 85% of the mutations known to cause disease.

Exome sequencing is used by researchers in human disease, with the aim of elucidating important variants for heritability in cancer research, Mendelian disorders or other complex cases.

Advantages of the Ion Proton platform used by Bioarray:

Bioarray works with the Ion Proton™ platform and the Ion AmpliSeq™ system that provides the highest enrichment efficiency, offering 90% of uniformity in the coverage and with a large part of the nucleotides sequenced to a depth of around 20X. Bioarray also offers a complete bioinformatic study of the sequencing result, reporting in detail the found variants and the probability of the clinical significance according to existing research literature and data bases.

  • Proprietary semiconductor sequencing technology that directly transduces biochemical data to digital values, avoiding the need for expensive optical elements and complex sequencing chemical reactions.
  • Allows high coverage, with > 90% of nucleotides sequenced at 20X
  • Scalable and flexible work volume of 1 or 2 human exomes per sequencing run, by means of the multiplexing of two samples per Ion PI™ chip.
  • Additionally, it is possible to make a trio analysis (proband plus parents) in order to characterize variants in the proband that can account for the Mendelian disorder
  • Fast and high accuracy bioinformatics analysis by Ion Reporter™ software.
  • Exome service includes: data filtering and quality control; alignment; SNPs, InDels and CNVs detection, with annotations from public data bases.

Short turnaround times (results delivered within one month).