Phased Sequencing
Introduction to Phased Sequencing
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.
Benefits of Phased Sequencing
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:
- Analyze compound heterozygotes
- Measure allele-specific expression
- Identify variant linkage
Human Whole-Genome Phasing Solutions
Enhanced genome mapping
Mapped read technology provides improved mapping in low-complexity regions, ultra-long phasing of genetic variants, and enhanced detection of structural variants.
Learn about the technologyBaseSpace Sequence Hub
The Illumina genomics computing environment, offering specialized apps for NGS data analysis and management.
Learn moreAdditional Resources
Achieve accurate genome mapping with unprecedented simplicity
See how mapped read technology can simplify your NGS workflow and view examples of how the technology can help improve genomic insights in challenging genomic regions and analysis scenarios.
Long-Read Sequencing Technology
This approach can help resolve challenging regions of the genome, detect complex structural variants, and facilitate de novo assembly.
Unravel complex traits with phased sequencing
Explore NGS applications that deliver high-quality results to accelerate research on various complex diseases, including neurodegenerative, psychological, and autoimmune disorders.
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