Journal article

Exploring effective approaches for haplotype block phasing.

Ziad Al Bkhetan, Justin Zobel, Adam Kowalczyk, Karin Verspoor, Benjamin Goudey

BMC Bioinformatics | BioMed Central | Published : 2019


BACKGROUND: Knowledge of phase, the specific allele sequence on each copy of homologous chromosomes, is increasingly recognized as critical for detecting certain classes of disease-associated mutations. One approach for detecting such mutations is through phased haplotype association analysis. While the accuracy of methods for phasing genotype data has been widely explored, there has been little attention given to phasing accuracy at haplotype block scale. Understanding the combined impact of the accuracy of phasing tool and the method used to determine haplotype blocks on the error rate within the determined blocks is essential to conduct accurate haplotype analyses. RESULTS: We present a s..

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Awarded by Melbourne Research Scholarship by the University of Melbourne

Funding Acknowledgements

ZB is supported by Melbourne Research Scholarship (ref: 103500) provided by the University of Melbourne. The University did not play any direct role in the design of the study or any of collection, analysis, interpretation of data or writing the manuscript, outside of the contributions of the authors that are University staff (KV, JZ, AK) as outlined in the previous section.