Hi-Fidelity Genomics: What have we been missing?

Gene Myers

The arrival of long read sequencing over the last decade has permitted nearly-complete genome reconstructions, in turn inspiring a number of consortia to sequence large clades of the nature world.  For example, the first, the Vertebrate Genome Project, founded in 2016, seeks to sequence all 72,000 extant vertebrate species.  More recently, the arrival of highly-accurate long read sequencing circa 2018-2019 has permitted fully haplotype-phased, chromosome-level genome reconstructions.

We present these developments and illustrate what we've been discovering from such exquisite reconstructions.  We also discuss areas where further improvement is required. If time permits, we will present technical concepts around the algorithms and computations that have been developed in support of these trends.