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Stephens, M. & Donnelly, P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data.
One of these challenges is haplotype inference; methods for haplotype inference designed for small data sets from candidate-gene studies do not scale well to the large number of individuals genotyped in whole-genome association studies.
The most frequently used methods for haplotype reconstruction are based either on the maximum likelihood-based expectation-maximization (EM) algorithm [7] or on a Bayesian framework incorporating the coalescent model [8], [9].
Theory and methods for haplotype discovery have well been established for natural populations [13] in which the non-random association among different single nucleotide polymorphims (SNP), specified by the coefficients of linkage disequilibria, lays a foundation for the mixture model of haplotyping a quantitative trait.
Different methods for haplotype reconstruction have different strengths and weaknesses.
Fast, accurate, and scalable methods for haplotype assembly of diploid and polyploid organisms are needed.
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Methods for haplotyping and DNA copy-number typing of single cells are paramount for studying genomic heterogeneity and enabling genetic diagnosis.
TV, MZE and JRV are co-inventors on a submitted patent application PCT/EP2011/060211 (Methods for haplotyping single cells - KU Leuven).
Stephens, M., Smith, N.J. & Donnelly, P. A new statistical method for haplotype reconstruction from population data.
Stephens, M., Smith, N. J. & Donnelly, P. A new statistical method for haplotype reconstruction from population data.
One of the challenges of large disease-association studies is developing a fast and accurate computing method for haplotype inference from genotype data.
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