Reposted by Lucia Ramirez-Navarro
New preprint from another part of my PhD! 📝👇
Some mutations arise after fertilisation 🧬, so early they can appear in both a parent’s body and their germ cells.
By analysing family trio genomes 👪, we built one of the largest catalogues of these “hidden” inherited variants yet.
tinyurl.com/mvns2ytv
tinyurl.com
Landscape of parental postzygotic mutations in >11,000 rare disease trios
Postzygotic mutations (PZMs) arising post-fertilisation, prior to primordial germ cell specification, may be subsequently inherited by both somatic and germ cells, causing somatic mosaicism in the par...
