Phased Sequencing

Scientists in lab

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?

Learn about the benefits of genome phasing.

View Video

Human Whole-Genome Phasing Solutions

BaseSpace Sequence Hub

The Illumina genomics computing environment, offering specialized apps for NGS data analysis and management.

Learn More
Interested in receiving newsletters, case studies, and information on genomic analysis techniques?

Enter your email address.

Additional Resources

Unravel Complex Traits with Phased Sequencing

Combine TELL-Seq with Illumina NGS and the TELL-Seq BaseSpace App for ultra-long phasing blocks in human genome phasing studies.