Whole Exome Sequencing for Rare Diseases

Researchers at our company have accumulated extensive experience in the execution of WES and the bioinformatic analysis of sequencing results. We provide customers with complete WES solutions, including experimental design, sample inspection, library preparation, exon enrichment and sequencing, and detailed bioinformatic analysis. Our comprehensive services help customers accurately detect rare variants in the protein-coding regions of the genome, accelerating the discovery of mutations and pathways associated with rare diseases. Our services include, but are not limited to:

DNA isolation for next-generation sequencing (NGS)
Preparation and quality control of sample and library
Human exome sequencing and data quality control
Exome-seq analysis
Alignment to a reference genome
SNP and InDel calling
Somatic SNP/InDel/CNV mutation detection
Annotation and statistics of rare disease-associated variants
Candidate site analysis