Historically, whole-genome sequencing generated a single consensus sequence without distinguishing between variants on homologous chromosomes. Phased sequencing, or genome phasing, addresses this limitation by identifying alleles on maternal and paternal chromosomes. This information is often important for understanding gene expression patterns for genetic disease research.
Next-generation sequencing (NGS) enables whole-genome phasing without relying on trio analysis or statistical inference. By identifying haplotype information, phased sequencing can inform studies of complex traits, which are often influenced by interactions among multiple genes and alleles. Phasing can also provide valuable information for genetic disease research, as disruptions to alleles in cis or trans positions on a chromosome can cause some genetic disorders.
Phasing can help researchers to:
Long range information on a genome-wide scale, including variant calling, phasing and extensive characterization of genomic structure using NGS technology.Learn More
The Illumina genomics computing environment, offering specialized apps for NGS data analysis and management.Learn More