Targeted sequencing is a relatively inexpensive technique that interrogates known disease-causing genes. It is most effective for rare disease analysis when a specific condition or disease state is suspected. Learn more about rare disease targeted sequencing.
Somatic mutations in cerebral cortical malformations.
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA
N Engl J Med 371 733-43 2014
Researchers used the TruSeq Custom Amplicon Kit on the MiSeq System to identify rare mosaic mutations that lead to neural malformations. This study determined that NGS is a better alternative than Sanger sequencing for detecting somatic mutations.
This dual-indexing method uses the MiSeq System to sequence DNA barcode markers. The approach reduces both per specimen costs and labor time by nearly 80%, compared to Sanger sequencing. It also allows recovery of multiple sequences per specimen, for deeper analysis of genetic variation in target gene regions.
Researchers use next-generation sequencing (NGS) on the MiSeq System to screen for HIV-1 genotypic resistance to antiretroviral therapy. NGS demonstrates a higher sensitivity than Sanger sequencing for detecting minority variants involved in resistance.