Friday, January 29, 2016

How Whole Genome Sequencing works


Whole genome sequencing (WGS) is performed on human samples, model organisms, and microbial organisms. Deep coverage whole genome sequencing of human and model organisms is the ultimate tool for discovering the full range of genetic variations, including SNPs, insertions, deletions, inversions, complex rearrangements, and copy number variations. Low-pass whole genome human sequencing can also be performed to assess genomic variations such as aneuploidy, where large regions or whole chromosomes can be duplicated or deleted.
Whole genome sequencing of microbial organisms is used to characterize and discover new organisms or to type specific bacterial organisms.
Generating deep coverage of whole genomes for complex organisms requires technologies capable of sequencing in a high-throughput and cost-effective manner. Applications like aneuploidy detection require less depth in coverage (low-pass coverage) of the entire genome and benefit from clear and precise data generated in a single-day workflow at an affordable price.