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Related Concept Videos

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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Related Experiment Video

Updated: Aug 23, 2025

Strand-Specific Analysis of Proteins at Replicating DNA Strands by Enrichment and Sequencing of Protein-Associated Nascent DNA Method
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Chromosome-Length Haplotypes with StrandPhaseR and Strand-seq.

Vincent C T Hanlon1, David Porubsky2, Peter M Lansdorp3,4

  • 1Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, Canada. vhanlon@bccrc.ca.

Methods in Molecular Biology (Clifton, N.J.)
|November 6, 2022
PubMed
Summary

Strand-seq technology, combined with local haplotype data, enables the creation of complete chromosome-length haplotypes. This study demonstrates phasing single nucleotide variants (SNVs) using the StrandPhaseR R package.

Keywords:
Genome in a BottleHaplotypePhasingStrand-seqStrandPhaseR

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Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Dense local haplotypes are extractable from sequencing data, but struggle to form chromosome-length haplotypes.
  • Strand-seq is a single-cell sequencing method capturing global phase information via DNA strand orientation.
  • Combining Strand-seq with local haplotypes can achieve complete chromosome-length phasing.

Purpose of the Study:

  • To demonstrate the utility of Strand-seq for obtaining chromosome-length haplotype information.
  • To apply the StrandPhaseR R package for phasing single nucleotide variants (SNVs).
  • To validate the method using publicly available Genome in a Bottle data.

Main Methods:

  • Utilized long-read or droplet-based sequencing data for local haplotype extraction.
  • Employed Strand-seq to capture sparse global phase information from single DNA strands.
  • Applied the StrandPhaseR R package to phase SNVs in sample HG005.

Main Results:

  • Successfully phased SNVs using Strand-seq data and the StrandPhaseR package.
  • Demonstrated the ability to combine local haplotype blocks into chromosome-length haplotypes.
  • Validated the phasing accuracy with publicly available reference data.

Conclusions:

  • Strand-seq is a valuable tool for generating complete chromosome-length haplotypes.
  • The StrandPhaseR R package effectively facilitates SNV phasing with Strand-seq data.
  • This approach overcomes limitations in current haplotype phasing methods.