The relatively recent need to sequence entire genomes has driven innovative developments to allow for sequencing technology to be faster, cheaper, and more accurate.
Many scientists and clinicians are encouraged by the fast pace of innovation in this area, as the first clinical diagnostics applications demonstrate the results not achievable by the traditional sequencing or hybridization techniques.
While the scientific community agrees that many important genetic mutations are found in the noncoding areas, sequencing of the entire exome is a powerful and cost-effective new tool for dissecting the genetic basis of many diseases and traits. Whole exome sequencing (WES) is rapidly achieving the status of an approach of choice for identifying genes that underlie Mendelian disorders, especially when conventional approaches fail.
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