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
What is phased sequencing?
This introduction describes how genome phasing enables resolution of de novo mutations and facilitates genetic disease and population studies.
View videoHuman whole-genome phasing solutions
Enhanced genome mapping
Illumina mapped read technology provides improved mapping in low-complexity regions, ultra-long phasing of genetic variants, and enhanced detection of structural variants.
Learn about mapped read technologyBaseSpace Sequence Hub
The Illumina genomics computing environment, offering specialized apps for NGS data analysis and management.
View productAdditional 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
Resolve challenging regions of the genome, detect complex structural variants, and perform de novo assembly.
Unravel complex traits with phased sequencing
This application note introduces a comprehensive workflow for generating ultra-long phasing blocks.
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