In the recent years, Exome sequencing is one of the most followed technologies for identifying disease-causing variants in the protein-coding regions of the genome. This technology targets only protein coding regions (exome) of the genome which is about 2 % of the whole genome.
NeuGen accepts Exome samples from healthcare industries (patients) as well as research institutions for whole exome sequencing and clinical exome sequencing.
Whole Exome Sequencing Analysis
- Quality control of raw data
- Mapping reads to Reference Genome
- Exome enrichment
- Variant calling (SNPs, MNVs, Insertion, and Deletion)
- Variant filtration
Clinical Exome Sequencing Analysis
- Quality control of raw data
- Mapping reads to Reference Genome
- Exome enrichment
- Variant calling (SNPs, MNVs, Insertion, and Deletion)
- Variant filtration and annotation
- Variant annotation with functional genomic effects