Exome sequencing is a targeted sequencing approach that is restricted to
the protein-coding regions of genomes. The exome is estimated to
encompass approximately 1% of the genome, yet contains approximately 85%
of disease-causing mutations [1]. For genetic researchers trying to
identify the genes implicated in over 6,800 rare diseases [2], exome
sequencing enables rapid, cost-effective identification of common single
nucleotide variants (SNVs), copy number variations (CNVs), and small
insertions or deletions (indels), as well as rare de novo mutations that
may explain the heritability of Mendelian and complex disorders [3].
Rapid, accurate exome sequencing with the Ion AmpliSeq™ Exome workflow
Leveraging the ultrahigh-multiplex PCR approach of Ion AmpliSeq™
technology and the superior accuracy of the new Ion Proton™ Hi-Q™
Sequencing Solution, the Ion AmpliSeq™ Exome RDY Kit allows for rapid,
accurate sequencing of key exonic regions of the genome, going from DNA
to variants in just 2 days.
Exome sequencing services: Ion Torrent™ Certified Service Providers
The Ion Torrent™ Certified Service Provider program is a global network
of validated service providers that enable researchers in small- and
medium-sized laboratories to get high-quality exome and transcriptome
sequencing data generated on the Ion Proton™ System from small amounts
of input material with very fast turnaround.
