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Related Concept Videos

Genome Copying Errors02:46

Genome Copying Errors

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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Comparing Copy Number Variations and SNPs02:26

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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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Mismatch Repair

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Overview
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Mismatch Repair01:20

Mismatch Repair

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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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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Maxam-Gilbert Sequencing01:05

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In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
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Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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Lost in Interpretation: Evidence of Sequence Variant Database Errors.

Adam Coovadia1

  • 1Laboratory Operations Director, Genomic Scientist, EvolveGene, St. Petersburg, FL.

Journal of the Association of Genetic Technologists
|May 2, 2017
PubMed
Summary

Genetic variant databases contain errors, leading to conflicting clinical reports. Addressing these inaccuracies is crucial for reliable molecular genetics diagnostics.

Area of Science:

  • Clinical Molecular Genetics
  • Bioinformatics
  • Genomic Data Management

Background:

  • Variant databases are essential resources for clinical molecular genetics laboratories.
  • Existing databases contain significant interpretive and syntactic errors affecting germline variant interpretation.
  • Over-reliance on these databases can introduce errors into clinical molecular genetic reports.

Purpose of the Study:

  • To review evidence of discrepancies in frequently used genetic variant databases.
  • To discuss the implications of annotation, classification, and interpretive errors.
  • To provide recommendations for addressing these errors in clinical genetic testing.

Main Methods:

  • A non-systematic literature review was conducted.
  • Evidence of discrepancies in genetic variant databases was examined.

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  • Implications and recommendations were discussed.

    • Main Results:

    • Widespread interpretive and syntactic errors exist in genetic variant databases.
    • 12-50% of clinical test reports conflict with those from other laboratories due to database errors.
    • Over-dependence on databases is a potential source of error in clinical molecular genetics.

    Conclusions:

    • Errors in genetic variant databases pose a significant risk to accurate clinical reporting.
    • Addressing these database discrepancies is vital for improving the reliability of clinical molecular genetics.
    • Recommendations are provided to mitigate errors in variant annotation, classification, and interpretation.