Benchmarked sequencing methods reveal hidden mosaic variation in the human brain
Mosaic variants (MVs) record cellular lineages, but their recovery is strongly method-dependent. Here, we benchmarked four duplex sequencing methods alongside bulk and single-neuron genome sequencing in matched human brain tissue. The methods differed in genome representation, MV yield and mutational profiles, with limited caller-level concordance. However, read-level interrogation revealed…
We haven't written up this one. bioRxiv has the full story — the link below goes straight to it.
