2015 | OriginalPaper | Buchkapitel
HapTree-X: An Integrative Bayesian Framework for Haplotype Reconstruction from Transcriptome and Genome Sequencing Data
verfasst von : Emily Berger, Deniz Yorukoglu, Bonnie Berger
Erschienen in: Research in Computational Molecular Biology
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By running standard genotype calling tools, it is possible to accurately identify the number of “wild type” and “mutant” alleles for each single-nucleotide polymorphism (SNP) site. However, in the case of two heterozygous SNP sites, genotype calling tools cannot determine whether “mutant” alleles from different SNP loci are on the same chromosome or on different homologous chromosomes (i.e. compound heterozygote).