Long-read sequencing of families reveals increased germline and postzygotic mutation rates in repetitive DNA - PubMed
3 days ago
- #genetics
- #sequencing
- #mutation
- Long-read sequencing enhances detection of mutations in repetitive DNA regions.
- Study involved 73 children from 42 autism families, totaling 157 individuals.
- Average of 95 de novo mutations per transmission observed.
- No significant difference in mutation rates between affected and unaffected siblings.
- Long-read sequencing increases de novo mutation discovery by 20-40%.
- Germline mutation rate is 1.30×10^-8 substitutions/base pair/generation.
- Postzygotic mutation rate is 0.23×10^-8 substitutions/base pair/generation.
- Mutation rates are higher in repetitive DNA, influenced by length and identity.
- Postzygotic mutations in repeats likely due to faulty DNA repair and interlocus gene conversion.