TAILIEUCHUNG - Báo cáo sinh học: "Haplotypes versus genotypes on pedigrees"

Tuyển tập các báo cáo nghiên cứu về sinh học được đăng trên tạp chí y học Molecular Biology cung cấp cho các bạn kiến thức về ngành sinh học đề tài: Haplotypes versus genotypes on pedigrees. | Kirkpatrick Algorithms for Molecular Biology 2011 6 10 http content 6 1 10 AMR ALGORITHMS FOR MOLECULAR BIOLOGY RESEARCH Open Access Haplotypes versus genotypes on pedigrees Bonnie B Kirkpatrick1 2 Abstract Background Genome sequencing will soon produce haplotype data for individuals. For pedigrees of related individuals sequencing appears to be an attractive alternative to genotyping. However methods for pedigree analysis with haplotype data have not yet been developed and the computational complexity of such problems has been an open question. Furthermore it is not clear in which scenarios haplotype data would provide better estimates than genotype data for quantities such as recombination rates. Results To answer these questions a reduction is given from genotype problem instances to haplotype problem instances and it is shown that solving the haplotype problem yields the solution to the genotype problem up to constant factors or coefficients. The pedigree analysis problems we will consider are the likelihood maximum probability haplotype and minimum recombination haplotype problems. Conclusions Two algorithms are introduced an exponential-time hidden Markov model HMM for haplotype data where some individuals are untyped and a linear-time algorithm for pedigrees having haplotype data for all individuals. Recombination estimates from the general haplotype HMM algorithm are compared to recombination estimates produced by a genotype HMM. Having haplotype data on all individuals produces better estimates. However having several untyped individuals can drastically reduce the utility of haplotype data. Pedigree analysis both linkage and association studies has a long history of important contributions to genetics including disease-gene finding and some of the first genetic maps for humans. Recent contributions include fine-scale recombination maps in humans 1 regions linked to Schizophrenia that might be missed by genome-wide association studies 2 and .

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