最新科研成果
- Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs
- A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations
- Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
最新演讲
- Deep amplicon resequencing identified parental mosaicism for approximately 10% "de novo" SCN1A mutations in Dravet Syndrome families and was capable of multiple validations of mosaicism
- Approximately 10% of “de novo” SCN1Amutations causing Dravet syndrome are inherited from undetected parental mosaicism