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LNISKS: Reference-free mutation identification for large and complex crop genomes
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LNISKS: Reference-free mutation identification for large and complex crop genomes

Radoslaw Suchecki, Ajay Sandhu, Stephane Deschamps, Victor Llaca, Petra Wolters, Nathan S Watson-Haigh, Margaret Pallotta, Ryan Whitford and Ute Baumann
bioRxiv : the preprint server for biology
Cold Spring Harbor Laboratory
2019
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Abstract

Mutation discovery is often key to the identification of genes responsible for major phenotypic traits. In the context of bulked segregant analysis, common reference-based computational approaches are not always suitable as they rely on a genome assembly which may be incomplete or highly divergent from the studied accession. Reference-free methods based on short sequences of length k (k-mers), such as NIKS, exploit redundancy of information across pools of recombinant genomes. Building on concepts from NIKS we introduce LNISKS, a mutation discovery method which is suited for large and repetitive crop genomes. In our experiments, it rapidly and with high confidence, identified mutations from over 700 Gbp of bread wheat genomic sequence data.

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