Name:
Detecting DNA methylation in the human genome
Description:
Detecting DNA methylation in the human genome
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Duration:
T00H01M58S
Embed URL:
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Content URL:
https://cadmoreoriginalmedia.blob.core.windows.net/700bd903-6671-4241-bbb0-a727a17624e9/BTN In Focus - Oxford nanopore - V6 .mp4?sv=2019-02-02&sr=c&sig=83zoiarBnYR%2B1Ik9ne4GN7pqjMJixyYcUe8oFWODjdE%3D&st=2024-12-03T17%3A31%3A40Z&se=2024-12-03T19%3A36%3A40Z&sp=r
Upload Date:
2021-11-15T00:00:00.0000000
Transcript:
Language: EN.
Segment:0 .
ABIGAIL SAWYER: DNA methylation is an epigenetic mechanism characterized by the addition of a methyl group to a DNA molecule. While these additions do not alter the nucleotide sequence, this type of epigenetic modification can have profound effects, including phenotypic alterations, such as how a drug is metabolized by the liver. In mammalian genomes, and especially in humans, the most well-characterized and widely studied epigenetic modification is 5mC DNA methylation, the addition of a methyl group to a cytosine nucleotide.
ABIGAIL SAWYER: With the power to switch off genes, these modifications play an important role in regulating gene expression, and abnormal methylation is associated with many diseases, including cancer and developmental disorders. Historically, methylation has been challenging to analyze due to difficulties with intact detection. As PCR removes base modifications, their detection via traditional sequencing technologies requires the use of special library preparation steps, typically bisulfite conversion, which damage nucleic acids, resulting in short sequencing reads.
ABIGAIL SAWYER: With nanopore sequencing, PCR is not required, enabling DNA and RNA modifications to be preserved and directly sequenced alongside the nucleotide sequence, with no additional library preparation steps. Long-range epigenetic changes, structural variants, and single nucleotide polymorphisms can be identified and phased in a single data set. The long read capability also means researchers can phase these calls to study patterns of inheritance, which is very useful in the context of disease-associated methylation changes.
ABIGAIL SAWYER: Keep up-to-date with this In Focus to find out how nanopore sequencing is changing genomics research. You can catch up at www.biotechniques.com, and follow us on Facebook, Twitter, and LinkedIn for all the latest updates.