Exome sequencing is a specific variant of the targeted approach discussed above that has also been rapidly incorporated into clinical genetic screening. After genomic material is extracted from the sample, libraries must be prepared. Tlemsani and colleagues performed whole-exome sequencing on the germ lines of a cohort of participants with SCLC, finding that almost half the cohort carried deleterious variants in cancer-predisposing genes. Small cell lung cancer (SCLC) is generally regarded as a smoker’s cancer. DNA libraries can be prepared in as little as 1 day and require only 4–5 Gb of sequencing per exome. However, the genetic factors that affect susceptibility to SCLC have not been fully evaluated. Targeted NGS enables rapid identification of common and rare genetic variants. For more information on Ion AmpliSeq targeted NGS panels, visit here. Exome sequencing is a type of targeted next generation sequencing. Unlike exome sequencing, which generates a large number of variants—a sizable proportion of which can be of unknown significance—targeted sequencing helps reduce the risk of stumbling upon these variants. The advantages Library prep includes the addition of adapters to identify the samples or molecules in the sample and to help the DNA or RNA adhere to the sequencing apparatus. Targeted gene panels can be run at a higher throughput and are often more cost-effective than whole exome sequencing. Keywords: genetic renal disease; genetics and development; kidney development. Thus, sequencing the whole exome makes it possible to screen for a wide variety of disease-associated variants in a single test. The exome is the best studied and most well understood part of the genome, and is where the vast majority of known disease-casing variants are found. For example, in oncology, targeted panels remain the optimal mode of application, while in medical genetics, next-generation sequencing is moving beyond panels to whole exome sequencing and even to whole genome sequencing. Targeted exome sequencing also proved to be an efficient and cost-effective strategy to identify pathogenic mutations and deletions in known CAKUT genes. By focusing on genes likely to be involved with disease, you can reduce expense and focus sequencing resources on your targeted region. More information: "Whole-exome sequencing reveals germline-mutated small cell lung cancer subtype with favorable response to DNA repair–targeted … Instead of focusing on candidate genes, all coding regions across the genome are targeted for unbiased screening of coding variants. Exome sequencing detects variants in coding exons, with the capability to expand targeted content to include untranslated regions (UTRs) and microRNA for a more comprehensive view of gene regulation. 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