DNA SEQUENCING

WGS determines an organism’s complete DNA sequence in a single test.  Human WGS is not only a research tool, but is also being introduced into clinics to advance personalized medicine. It captures both large scale genomic alterations and small variants at the single nucleotide level. WGS sheds light on pathogenic and susceptibility gene detection in cancer and other diseases, while facilitating genome-wide association studies and evolutionary analysis.   

WGBS detects the DNA methylation status of single cytosines at the genome-wide level, by treating genomic DNA with sodium bisulfite before sequencing. Unmethylated cytosines appear as thymines after sequencing, while methylated cytosines are not converted. DNA methylation is an epigenomic modification that plays an important role in gene regulation, development and tumorigenesis. WGBS has been used as an effective tool for the early diagnosis of diseases, and in developmental biology research, forensic science and many other applications.  

WES targets the exome – the protein–coding region of the genome. The human exome makes up ~2% of the whole genome, while containing approximately 85% of disease variants, making the test more efficient at detecting rare and low frequency variants compared to targeted hotspot gene panels. WES is also more cost-effective when WGS is not practical or necessary. We offer different options for exome enrichment, from coding exons only to expanded panels with untranslated regions (UTRs).