In addition, further research is needed to develop cost effective sequencing study designs and analysis methods that incorporate the uncertainty in the reference haplotypes and imputation into the association analysis.
Next generation sequencing (NGS) collectively describes these recently-developed genetic technologies that enable rapid and cost effective sequencing of large amounts of DNA.
They are produced by an automated and cost effective sequencing mechanism that, however, results in low quality sequences which typically do not cover the complete transcript.
Additionally, improvements in exonic enrichment protocols will usher in an era of cost effective sequencing of all the amino acid coding bases of genomes.
When applying a threshold of £20,000 per QALY, the most cost-effective sequence was docetaxel monotherapy followed by capecitabine monotherapy, followed by no further chemotherapy.
With the advent of high-throughput sequencing technology, there is increased ability to obtain cost-effective sequence data from non-model organisms, including sequencing from total RNA libraries to target coding genes at particular time points.
Next generation sequencing (NGS) technologies have unlocked a new era of plant and animal genome sequencing, providing cost-effective sequence data for developing genetic markers that can be used in plant breeding and genetic studies.
At the moment, there is no consensus on which test should be initially used in the diagnostic work-up, or on the most effective and cost-effective sequence of tests.
The technologies offer drastically faster and cost-effective sequence throughput and are vastly superior to shotgun sequencing due to the high volume of data and the drastically short time to sequence a whole genome or disease genome, but genome assembly is much more computational expansive.
Although the read throughput of the Ion PGM is lower than that of GAIIx and Hiseq sequencers, the cost-effective sequencing and the rapid runtime (4.5 hours per run) of this platform facilitates routine analysis.
We present the design and analysis pipeline of rare-variant studies and review cost-effective sequencing designs and genotyping platforms.
