Toward a more holistic method of genome assembly assessment

摘要

Genome assembly is the process of assembling biological reads from sequencing into larger sequences called . A common method of quantifying the quality of genome assemblies is to compute statistics about contiguity. For example, the assembly for at the National Center for Biotechnology Information (NCBI) website reports features like N50 (a number which represents the smallest contig such that half the genome is represented by contigs of size N50 or larger [ , ]), total sequence length, gaps between scaffolds, and number of contigs [ ]. However, there is no obvious relationship between these numbers and whether a genome contains any useful information. Indeed, many papers published in the past ten years have cited this lack of a relationship, in addition to N50’s own issues, as a reason to replace or supplement N50.