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Open Access Highly Accessed Research article

Genome wide SNP discovery, analysis and evaluation in mallard (Anas platyrhynchos)

Robert HS Kraus1*, Hindrik HD Kerstens2, Pim Van Hooft1, Richard PMA Crooijmans2, Jan J Van Der Poel2, Johan Elmberg3, Alain Vignal4, Yinhua Huang5, Ning Li5, Herbert HT Prins1 and Martien AM Groenen2

Author Affiliations

1 Resource Ecology Group, Wageningen University, P.O. Box 47, 6700 AA, Wageningen, The Netherlands

2 Animal Breeding and Genomics Centre, Wageningen University, Marijkeweg 40, Wageningen, 6709 PG, the Netherlands

3 Aquatic Biology and Chemistry, Kristianstad University, SE-291 88, Kristianstad, Sweden

4 UMR Génétique Cellulaire, Centre INRA de Toulouse, 31326 Castanet-Tolosan France

5 State Key Laboratory for Agrobiotechnology, China Agricultural University, Beijing 100094, PR China

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BMC Genomics 2011, 12:150  doi:10.1186/1471-2164-12-150

Published: 16 March 2011

Abstract

Background

Next generation sequencing technologies allow to obtain at low cost the genomic sequence information that currently lacks for most economically and ecologically important organisms. For the mallard duck genomic data is limited. The mallard is, besides a species of large agricultural and societal importance, also the focal species when it comes to long distance dispersal of Avian Influenza. For large scale identification of SNPs we performed Illumina sequencing of wild mallard DNA and compared our data with ongoing genome and EST sequencing of domesticated conspecifics. This is the first study of its kind for waterfowl.

Results

More than one billion base pairs of sequence information were generated resulting in a 16× coverage of a reduced representation library of the mallard genome. Sequence reads were aligned to a draft domesticated duck reference genome and allowed for the detection of over 122,000 SNPs within our mallard sequence dataset. In addition, almost 62,000 nucleotide positions on the domesticated duck reference showed a different nucleotide compared to wild mallard. Approximately 20,000 SNPs identified within our data were shared with SNPs identified in the sequenced domestic duck or in EST sequencing projects. The shared SNPs were considered to be highly reliable and were used to benchmark non-shared SNPs for quality. Genotyping of a representative sample of 364 SNPs resulted in a SNP conversion rate of 99.7%. The correlation of the minor allele count and observed minor allele frequency in the SNP discovery pool was 0.72.

Conclusion

We identified almost 150,000 SNPs in wild mallards that will likely yield good results in genotyping. Of these, ~101,000 SNPs were detected within our wild mallard sequences and ~49,000 were detected between wild and domesticated duck data. In the ~101,000 SNPs we found a subset of ~20,000 SNPs shared between wild mallards and the sequenced domesticated duck suggesting a low genetic divergence. Comparison of quality metrics between the total SNP set (122,000 + 62,000 = 184,000 SNPs) and the validated subset shows similar characteristics for both sets. This indicates that we have detected a large amount (~150,000) of accurately inferred mallard SNPs, which will benefit bird evolutionary studies, ecological studies (e.g. disentangling migratory connectivity) and industrial breeding programs.