Category | Current study | Kitzmanet al. | Fan et al. |
---|---|---|---|
Parental haplotype inference | |||
Method for parental haplotype construction | Trio strategy with corresponding grandparents and CHS | Maternal: fosmid-based approach [26] Paternal: could not be assessed due to lowmolecular weight of saliva DNA | Maternal: single-cell approach [27] Paternal: not collected |
Strategy for fetal genome recovery | |||
Paternalallele | Two different alleles of fetal haplotype, transmitted from the two parents, were reconstructed by a HMM model in one step, including transmitted chromosomes and recombination breakpoints | SBSS | SBSS+ imputation |
Maternal allele | Â | For maternal-only heterozygous sites, they used AIEto determine whole-block transitions and HMM to identify assembly errors and recombination breakpoints. For biparentally heterozygous sites, maternal alleles were determined by maternal-only heterozygous sites within the same block | Allele imbalance estimated by counting nucleotides specific to each of the two maternal alleles |
Recovery of fetal genome | |||
Genotype | Yes | Yes | Yes |
Haplotype | Yes | No | No |
De-novo mutation | No | Yes | No |