Estimating de novo mutation rates using parent-offspring pairs
Existing pedigree approaches to identifying de novo mutations (DNMs) require at least two parents and a single offspring, limiting applicability. Here, we introduce OOPS (Only One Parent Sequencing), a framework for detecting DNMs using only a single parent-offspring pair. OOPS uses short-read data from the parent and both short and long-read data from the offspring to reconstruct haplotypes in…
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