Ultra-deep sequencing of PCR amplicons is a highly targeted approach to analyzing specific genomic regions. Up to hundreds of genes can be sequenced simultaneously at approximately the same cost as a comparable single-gene assay.
Genotyping by sequencing, or next-generation genotyping, provides a low-cost genetic screening method to discover novel plant and animal SNPs and perform genotyping studies. This method is emerging in agricultural research.
Targeted sequencing studies focus on a select set of genes or gene regions that have known associations with cancer. The deep coverage offered by targeted resequencing allows for higher sensitivity to call variants in rare tumor subclones accurately. Learn more about targeted cancer sequencing.
Sequencing genes with known involvement in certain conditions, such as autism or cardiovascular diseases, can detect the variants associated with inherited disorders. NGS could help reduce research costs and shorten the time to answer compared to traditional, iterative approaches. Learn more about inherited condition screening.
Genetic Disease Research
Mendelian disorders can result from rare genetic variants. Exome sequencing allows targeted exploration of protein-coding regions of the genome to identify the rare variants that contribute to complex genetic diseases. Learn more about complex disease genomics.
Targeted sequencing of the genes used for human identification can inform forensic DNA testing and deliver more conclusive results for criminal casework, missing persons cases, or disaster victim identification. Learn more about forensic genomics.
16S rRNA Sequencing
Sequencing the bacterial 16S ribosomal RNA gene is a common amplicon sequencing method used to identify and compare bacteria present within a given sample. It is useful for studying complex microbiomes or environmental samples. Learn more about 16S rRNA 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.