• Lost sample to Gb
  • Lost extractions to bioinformatics
  • Lost amplicons to whole genomes

Whole Exome Seq

Exome sequencing is an exome-targeted technology that utilizes probes to capture exome regions selectively from a whole genome. By targeting the protein coding region, exome sequencing allows for the identification of novel gene mutations associated with both Mendelian disorders and common diseases.

Novogene now provides complete exome sequencing within 40 days, including library construction, sequencing and bioinformatic analysis.

Project Workflow

Exome Reseq Workflow

Sequencing Strategy

  • 180-280 bp insertion DNA library
  • HiSeq 2500 Platform V4 reagent, Paired-end 125 bp

Sample Requirements

  • DNA amount: ≥ 1.5 μg
  • DNA concentration: ≥50 ng/μl
  • Purity: OD 260/280= 1.8-2.0 without degradation and RNA contamination

Turnaround Time

  • Within 40 days from sample verification

Recommended Sequencing Depth

  • For Mendelian disorder/complex disease sample: effective sequencing depth above 50X
  • For tumor sample: effective sequencing depth above 100X

Analysis Pipeline

Exome Reseq Analysis