Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach
Giles S. Holt, Lois E. Batty, B. Alobaidi, Hannah Smith, Manon S. Oud, Liliana Ramos, Miguel Joao Xavier, Joris Andre Veltman
This study phases de novo mutations using a combined long-read and short-read sequencing approach, successfully determining parent-of-origin for 71% of analyzed mutations.
Human Mutation · Sep 1, 2022Peer-reviewedGenomics