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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Related Experiment Video

Updated: Dec 16, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.

My Linh Thibodeau1,2,3, Kieran O'Neill2, Katherine Dixon1

  • 1Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 7, 2020
PubMed
Summary

Long-read sequencing accurately resolves complex structural variants (SVs) in hereditary cancer genes, improving diagnosis and clinical management. This technology enhances the detection and classification of cancer-related genetic alterations.

Keywords:
genome sequencinghereditary cancerlong-read sequencingstructural variantsvariant interpretation

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Area of Science:

  • Genomics
  • Cancer Genetics
  • Bioinformatics

Background:

  • Structural variants (SVs) are implicated in hereditary cancer syndromes.
  • Short-read sequencing has limitations in detecting and characterizing complex SVs.

Purpose of the Study:

  • To evaluate the utility of long-read sequencing for resolving germline SVs in cancer susceptibility genes.
  • To improve the accuracy of SV detection and classification in cancer patients.

Main Methods:

  • Germline SVs were initially identified using short-read genome sequencing in 669 advanced cancer patients.
  • Candidate SVs were subsequently analyzed with Oxford Nanopore long-read sequencing.

Main Results:

  • Long-read sequencing confirmed eight pathogenic/likely pathogenic SVs.
  • Three variants were newly resolved, and two artifacts/benign variants were correctly classified.
  • Complex rearrangements, including one in TSC2, were accurately characterized.

Conclusions:

  • Long-read sequencing enhances the validation, resolution, and classification of germline SVs.
  • Improved SV detection has implications for genetic testing, cancer screening, and preventative strategies.