Improving genome assemblies, assessing structural variation and trait association using chromosome genomics and Illumina skim genotyping by sequencing – David Edwards


The genome sequence of an organism provides the basis for gene discovery, the analysis of genetic variation and the association of genomic variation with heritable traits. Genome sequence variation can range from single nucleotide polymorphisms to presence/absence of large regions or rearrangements. The ability to isolate individual chromosomes, combined with Illumina next generation DNA sequencing, provides the ability to perform chromosome genomics, to validate genome assemblies and identify structural variation between varieties. When this approach is combined with high resolution skim based genotyping by sequencing (GBS), it is possible to resolve genome structures and map heritable traits at extremely high resolution.

Acknowledgement: Philipp Bayer 1 , Pradeep Ruperao 1,2 , Kenneth Chan 1 , Michal Lorenc1, Kaitao Lai 1 , Sahana Manoli 1 , Paul Visendi 1 , Agnieszka Golicz 1 , Paula Martinez 1 , Satomi Hayashi 1 , Hana Simkova 3 , Jaroslav Dolezel 3 , Rajeev Varshney 2 , Jacqueline Batley 1 and David Edwards 1

1. School of Agriculture and Food Sciences, University of Queensland, Brisbane, QLD 4072, Australia

2. International Crops Research Institute for the Semi ‐ Arid Tropics (ICRISAT), India

3. Centre of the Region Haná for Biotechnological and Agricultural Research, Institute of Experimental Botany, Sokolovská 6, Olomouc, CZ ‐ 77200, Czech Republic.

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