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.

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Human Whole-Genome Phasing Solutions

10x Genomics Partnership

The 10x Genomics Chromium Genome Library Prep Kit provides long-range information on a genome-wide scale, including variant calling, phasing, and extensive characterization of genomic structure using NGS technology.

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BaseSpace Sequence Hub

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

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Additional Resources

Flexible High-Throughput Sequencer
Flexible High-Throughput Sequencer

The NovaSeq System offers scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.