Targeted isolation of cloned genomic regions by recombineering for
haplotype phasing and isogenic targeting.
Because the polyT repeat is reported as the key variant to define TOMM40 clades A and B, 12 we used this marker and APOE isoform information to perform analyses based on phylogenetic groups as described by Roses et al. 12
Haplotype phase was estimated using PHASE software.22 The phylogeny, which represents the evolutionary relatedness of the haploytpes, was estimated using neighbor - joining with 10 000 bootstrapping replicates in the CLC DNA workbench (CLC bio, Aarhus, Denmark)(Supplemental Figure 3; http://neuroscienceresearch.wustl.edu/Pages/cruchaga2011.aspx).
Not exact matches
These were error - corrected and utilized to infer
haplotypes using HASH and HAPCUT, yielding 269,392
phased haplotype blocks.
Detection of sharing by descent, long - range
phasing and
haplotype imputation.
Results: BCFtools / csq is a fast program for
haplotype - aware consequence calling which can take into account known
phase.
Haplotype analyses were conducted using
PHASE software for SNPs from the 1b receptor gene, TPH1 and TPH2.