Of the ~3.2 billion bases that comprise the human genome, only about 1% is represented by coding sequences. Whole-exome sequencing is a widely used next-generation sequencing (NGS) method that involves sequencing the protein-coding regions of the genome (Exome). The human exome represents less than 2% of the genome, but contains ~85% of known disease-related variants. By focusing on this most relevant portion of the genome, WES offers researchers the ability to use sequencing and analysis resources more efficiently.
Targeted gene sequencing panels are useful tools for analyzing specific mutations in a given sample. Focused panels contain a select set of genes or gene regions that have known or suspected associations with the disease or phenotype under study. Gene panels can be purchased with preselected content or custom designed to include genomic regions of interest.
We at National Genomics Core-CDFD have meticulous quality control in each step of the sequencing project. Experts with PhD and International experience are using top-notch technologies to carefully plan and generate high quality, meaningful data
Amplicon sequencing is a highly targeted approach that enables researchers to analyze genetic variation in specific genomic regions. The ultra-deep sequencing of PCR products (amplicons) allows efficient variant identification and characterization. At NGC, we standardized PCR followed by cost effective sequencing for many genes involved in single gene disorders. Customs projects can be designed for any gene of interest.
We at National Genomics Core-CDFD have meticulous quality control in each step of the sequencing project. Experts with PhD and International experience are using top-notch technologies to carefully plan and generate high quality, meaningful data
Genotyping by sequencing, or next-generation genotyping, is a genetic screening method for discovering novel plant and animal SNPs and performing genotyping studies. For some applications, such as genotype screening and genetic mapping, sequence-based genotyping provides a lower-cost alternative to arrays for studying genetic variation. Genotyping by sequencing techniques include amplicon-based targeted sequencing, hybridization-based enrichment sequencing, and restriction enzyme reduced representation sequence-based genotyping.
We at National Genomics Core-CDFD have meticulous quality control in each step of the sequencing project. Experts with PhD and International experience are using top-notch technologies to carefully plan and generate high quality, meaningful data.