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Abstract
A novel method for haplotype phasing in families after joint estimation of recombination fraction and linkage disequilibrium is developed. Results from Monte Carlo computer simulations show that the newly developed E.M. algorithm is accurate if true recombination fraction is 0 even for single families of relatively small sizes. Estimates of recombination fraction and linkage disequilibrium were 0.00 (SD 0.00) and 0.19 (SD 0.03) for simulated recombination fraction and linkage disequilibrium of 0.00 and 0.20, respectively. A genome fragmentation phasing strategy was developed and used for phasing haplotypes in a sire and 36 progeny using the 50 k Illumina BeadChip by: a) estimation of the recombination fraction and LD in consecutive SNPs using family information, b) linkage analyses between fragments, c) phasing of haplotypes in parents and progeny and in following generations. Homozygous SNPs in progeny allowed determination of paternal fragment inheritance, and deduction of SNP sequence information of haplotypes from dams. The strategy also allowed detection of genotyping errors. A total of 613 recombination events were detected after linkage analysis was carried out between fragments. Hot and cold spots were identified at the individual (sire level). SNPs for which the sire and calf were heterozygotes became informative (over 90%) after the phasing of haplotypes. Average of regions of identity between half-sibs when comparing its maternal inherited haplotypes (with at least 20 SNP) in common was 0.11 with a maximum of 0.29 and a minimum of 0.05. A Monte-Carlo simulation of BTA1 with the same linkage disequilibrium structure and genetic linkage as the cattle family yielded a 99.98 and 99.94% of correct phases for informative SNPs in sire and calves, respectively.
Highlights
Advances in molecular biology have allowed rapid and massive genotyping of Single Nucleotide Polymorphisms (SNP) in animal and plant species
Genome fragmentation phasing strategy (GFPS) steps assumptions are: 1) families are large with progeny sharing at least one parent; 2) both linkage disequilibrium and recombination events are modeled; and 3) use is made of SNP arrays with high coverage of the genome and with known SNP location
Monte Carlo computer results from joint estimation of recombination fraction and linkage disequilibrium An E.M. algorithm was implemented for the joint estimation of recombination fraction and linkage disequilibrium in both single and multiple family situations (Appendix 1)
Summary
Advances in molecular biology have allowed rapid and massive genotyping of Single Nucleotide Polymorphisms (SNP) in animal and plant species. SNPs have been assumed to be unlinked in spite of providing low information In the latter, haplotypes can be traced up to ancestors in the top of the pedigree [5,6,7]. Lai et al [13] proposed an algorithm for reconstructing haplotypes in a pedigree by assuming zero recombinants Their method can be applied to general pedigrees but it is not designed to make use of nuclear families with one single parent
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