Systematic evaluation of de novo mutation calling tools using whole genome sequencing data. #DeNovoMutations #DNMs #WholeGenomeSequencing #WGS #ToolBenchmarking #Genomics #Bioinformatics 🧬 🖥️
www.biorxiv.org/content/10.1...

Decoding Genetic Variation: De Novo Mutations in Focus University of Washington leveraged advanced sequencing technologies, including AVITI, to phase and assemble over 95% of the diploid genomes of the four-generation.

🧬 A new Nature study used the #AVITI platform to help assemble and phase 95% of diploid genomes across four generations—revealing how de novo mutations arise and why accuracy in tough regions matters. Learn more: bit.ly/3HEmDsu
#Genomics #PrecisionSequencing #DeNovoMutations