80 BIOTECHNOLOGY
End-to-end sequencing
The latest sequencing technologies include automation tools that make the process faster and more accurate. Sean Ottewell reports.
Les toutes dernières technologies de séquençage comprennent des outils d’automatisation qui rendent le processus plus rapide et plus précis. Un article de Sean Ottewell.
Die neuesten Sequenzierungstechnologien umfassen Automatisierungsinstrumente, die den Prozess schneller und genauer machen. Sean Ottewell berichtet.
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Fig. 1. The Select XLE-Series UV crosslinker covalently binds nucleic acids to membranes in under 30 seconds.
ife Technologies has announced the first end- to-end sequencing solution
for exon-level copy number variation (CNV) analysis, which combines the Ion Reporter CNV data analysis workflow, the Ion AmpliSeq Exome kit and the Ion Proton system.
Inherited and de novo CNVs of chromosomal regions, in which large regions (>1kb of the genome) are duplicated or deleted, are associated with many diseases, including cancer, autism, and schizophrenia. Until now, the primary CNV analysis methods – microarrays and fluorescence in situ hybridisation
– have had poor dynamic range, limited breakpoint resolution, lower genomic coverage, and can only detect known single nucleotide polymorphisms (SNPs).
“Te launch of the industry’s first solution for whole human exome CNV analysis using Ion AmpliSeq Exome is another example of how Ion Torrent is delivering turnkey solutions to enable sequencing for all,” said Ion Torrent’s vice president of marketing, Maneesh Jain. “Te Ion AmpliSeq Exome kit and Ion Reporter software provide an integrated solution for detecting SNPs, indels and high-resolution copy number variation.”
Te Ion Reporter software CNV data analysis workflow vastly simplifies and automates all of the steps for a priori identification and interpretation of CNVs, SNPs, and insertions/ deletions (indels) so virtually anyone can quickly understand the implications of their exome data with the same sensitivity as microarray data.
Users simply choose the predefined Ion Reporter software CNV data analysis workflow, run the sample and receive a list of mutations, including copy number variants ranging in size from exon level up to aneuploidies, and associated annotations drawn from dozens of public databases – all in a single day.
Life Technologies has also launched the Ion AmpliSeq Exome certified service provider programme, a global organisation of some of the world’s providers that will sequence and analyse human exomes in as little as two days. Sequencing requires just 50ng of DNA and is very competitively priced, making exome sequencing accessible to any researcher.
Until now, exome sequencing through a service provider has cost US$1000 (€727) or more, taken six to eight weeks and required as much as three micrograms of DNA. Using the Ion AmpliSeq Exome kit, the Ion Proton sequencer, and the Ion Reporter software, service providers can sequence two exomes in a single run – from DNA to results in just two days. Tis eliminates the need to batch samples just to make the price of exome sequencing affordable.
In addition to being faster and more affordable, Life Technologies says the Ion AmpliSeq Exome kit delivers the most uniform sequencing coverage in the industry, with up to 98 per cent of bases covered at 10x, and up to 95 per cent covered at 20x, for a single exome.
“Te Ion AmpliSeq Exome kit dramatically reduces the time and the cost required to sequence
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