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For any ambiguous loci that cannot be phased using the available information, MERLIN software provides output for all possible patterns of gene flow.
We also found three CD6 heterozygous SNPs in individual 3 and these SNPs were sufficiently close to be phased using the RNA-seq paired reads.
Furthermore, single-cell SNP genotypes can be phased using the genotypes of the parents and a close relative, and thus allow genome-wide tracing of the inheritance of parental haplotypes that bear a disease-causing non-mitochondrial genetic variant [ 53, 63].
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The structure was phased using the molecular replacement method with the synaptotagmin-1 C2B domain structure (PDB accession code 1TJM) as a search model.
The structures are homologous to that of wt-KaiC and diffraction data were phased using the molecular replacement technique and the KaiC structure with PDB ID code 3DVL [19] [19].
Single nucleotide polymorphism heterozygotes were phased using the software PHASE v2.1.1 [ 64, 65].
The 27 genes within the pathway were mapped to chromosomes, and haplotypes were phased using the program fastPHASE.
The final WES + GWAS + EXOME reference panel contained 487,381 variants and was phased using the ShapeIT v2 program [ 34].
The genotype panel consisting of exome chip of 5,349 samples was phased using the ShapeIT v2 progam.
As the genotype panel of SNP chip only, SNP chip data of 5,349 samples were phased using the ShapeIT v2 program.
Further, haplotypes flanking the CACNA1H mutation were phased using the BEAGLE program, revealing that the maximum shared haplotype flanking the CACNA1H mutation among these three kindreds was only 53.6 kb (87.0 kb for the two European kindreds, Figure 2).
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