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Related Experiment Video

Updated: Dec 31, 2025

Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis

Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis

Published on: August 12, 2019

High-resolution mapping of reciprocal translocation breakpoints using long-read sequencing.

Judy F C Chow¹, Heidi H Y Cheng², Estella Y L Lau²

¹Department of Obstetrics and Gynecology, The University of Hong Kong, Queen Mary Hospital, Pokfulam, Hong Kong.

|January 8, 2020

Summary

Long-read nanopore sequencing precisely maps translocation breakpoints. Optimizing data analysis with specific tools and visualization significantly speeds up breakpoint determination for genetic analysis.

Keywords:

Breakpoint Nanopore sequencing PGT-SR Translocation breakpoint mapping using nanopore sequencing

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Published on: September 23, 2011

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Last Updated: Dec 31, 2025

Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis

Genetic Mapping of Thermotolerance Differences Between Species of Saccharomyces Yeast via Genome-Wide Reciprocal Hemizygosity Analysis

Published on: August 12, 2019

Associated Chromosome Trap for Identifying Long-range DNA Interactions

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Published on: April 23, 2011

Quantitation and Analysis of the Formation of HO-Endonuclease Stimulated Chromosomal Translocations by Single-Strand Annealing in Saccharomyces cerevisiae

Quantitation and Analysis of the Formation of HO-Endonuclease Stimulated Chromosomal Translocations by Single-Strand Annealing in Saccharomyces cerevisiae

Published on: September 23, 2011

Area of Science:

Genomics
Molecular Biology
Bioinformatics

Background:

Reciprocal translocations are common chromosomal abnormalities.
Accurate breakpoint mapping is essential for genetic counseling and diagnosis.
Traditional methods for breakpoint mapping can be time-consuming and complex.

Purpose of the Study:

To evaluate long-read nanopore sequencing for high-resolution breakpoint mapping.
To optimize the bioinformatics pipeline for faster breakpoint determination.
To demonstrate the utility of visualization tools in designing PCR primers.

Main Methods:

Long-read nanopore sequencing of balanced translocation carriers.
Bioinformatic analysis using NanoSV with extracted alignment reads.
Breakpoint verification using Interactive Genomics Viewer (IGV).

Main Results:

Achieved base-pair resolution for breakpoint mapping.
Sequencing depth required ranged from 2.5x to 6.2x.
Splitting BAM files by translocated chromosomes accelerated breakpoint determination.
IGV facilitated accurate breakpoint identification and PCR primer design.

Conclusions:

Long-read nanopore sequencing is a powerful tool for accurate breakpoint mapping.
Optimized bioinformatics workflows enhance efficiency in genetic analysis.
IGV is crucial for validating breakpoints and designing downstream molecular assays.