2-AIN-506, 2-AIN-252: Seminar in Bioinformatics (2), (4)
Leto 2023
Abstrakt

Heng Li, Xiaowen Feng, Chong Chu. The design and construction of reference pangenome graphs with minigraph. Genome biology, 21(1):265. 2020.

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Download from publisher: https://genomebiology.biomedcentral.com/articles/10.1186/s13059-020-02168-z PubMed

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Abstract:

The recent advances in sequencing technologies enable the assembly of individual 
genomes to the quality of the reference genome. How to integrate multiple genomes 
from the same species and make the integrated representation accessible to 
biologists remains an open challenge. Here, we propose a graph-based data model 
and associated formats to represent multiple genomes while preserving the 
coordinate of the linear reference genome. We implement our ideas in the 
minigraph toolkit and demonstrate that we can efficiently construct a pangenome 
graph and compactly encode tens of thousands of structural variants missing from 
the current reference genome.