Article

Genome Graphs

2017-01-18

Abstract excerpt

There is increasing recognition that a single, monoploid reference genome is a poor universal reference structure for human genetics, because it represents only a tiny fraction of human variation. Adding this missing variation results in a structure that can be described as a mathematical graph: a genome graph. We demonstrate that, in comparison to the existing reference genome (GRCh38), genome graphs can substant...

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Literature Corpus work: 02e6f8ea-de6b-51a7-a13a-350a919afad3
DOI: 10.1101/101378

Open publication

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