A study published in Nature Genetics finds that sequence variations are linked to DNA methylation and various human diseases. The research, conducted at deCODE Genetics, uses a new technology called nanopore sequencing to analyze DNA sequences in real-time.
Nanopore sequencing allows for the direct measurement of DNA methylation and can read longer DNA sequences than previous technologies. This enables the measurement of DNA methylation on all CpG sites in the human genome and on chromosomes from both parents separately.
The study shows that sequence variations affect DNA methylation, which is linked to various diseases as well as other human traits. The research also finds that many noncoding sequence variants associated with disease are actually driving factors behind their progression.
The findings highlight the importance of understanding how noncoding sequence variations lead to diseases and provide new insights into the correlation between DNA methylation and gene expression.
Source: https://medicalxpress.com/news/2024-07-links-sequence-variants-dna-methylation.html