Exome sequencing in Mendelian disorders – An overview on KAPA Biosystems innovative solutions for Library preparation and quantification.
Over the past several years Mendelian disorders have received little attention mainly due to the lack of newer and more powerful methods to study these disorders. Exome sequencing has now become technically feasible due to the recent advances in high-throughput sequence capture methods and next-generation sequencing technologies which have offered new opportunities for Mendelian disorder research. The targeted sequencing of the subset of the human genome -that is protein coding – is a powerful new tool for dissecting the genetic basis of diseases and traits that have proved to be intractable to conventional gene-discovery strategies. Exome sequencing has been swiftly applied to the discovery of new causal variants and candidate genes for a number of Mendelian disorders. In addition, de novo variants were also identified for sporadic cases, which would have not been possible without exome sequencing.
The exponential gains in sequencing capacity have simultaneously led to growing sample throughput, increasing the demand for streamlined, efficient, and cost-effective library preparation protocols for multiplexed sample sequencing. Kapa Biosystems (supplied by Resnova In Italy) is using novel enzymes engineered via in vitro molecular evolution to develop a suite of innovative products for next generation sequencing library preparation, amplification, and quantification.
Dr. Diego Vozzi RESNOVA S.r.l.
