2007
DOI: 10.2144/000112552
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TraceHaplotyper: Using Direct Sequencing to Determine the Phase of an Indel Followed by Biallelic SNPs

Abstract: Sequencing of a diploid PCR product that is heterozygous for an indel mutation and a downstream single nucleotide polymorphism (SNP) allows determination of haplotype phase. Manual determination of phase from trace files of this type is tedious; therefore, we introduce the Perl script TraceHaplotyper, which works from the expected sequence to analyze a sequencing trace file for the sites that are informative for the genotyping and outputs the two underlying haplotypes.

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Cited by 9 publications
(5 citation statements)
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“…Thus, a method that would enable the separation of alleles or gene copies in direct sequencing is preferable to subcloning. Seroussi & Seroussi (2007) and Dmitriev & Rakitov (2008) have developed computer methods that deconvolute two alleles from polymorphic traces including indels. When indels are not too long and the trace data are of high quality, these tools have high accuracy, but they may still fail under some circumstances.…”
Section: Introductionmentioning
confidence: 99%
“…Thus, a method that would enable the separation of alleles or gene copies in direct sequencing is preferable to subcloning. Seroussi & Seroussi (2007) and Dmitriev & Rakitov (2008) have developed computer methods that deconvolute two alleles from polymorphic traces including indels. When indels are not too long and the trace data are of high quality, these tools have high accuracy, but they may still fail under some circumstances.…”
Section: Introductionmentioning
confidence: 99%
“…Finally, a number of programmes have been developed to deconvolute sequences downstream from heterozygous indels; these include: C hampuru (Flot 2007), I ndelligent (Dmitriev & Rakitov 2008) and T race H aplotyper (Seroussi & Seroussi 2007). While potentially useful for HapSTR loci, the accuracy of these programmes depends on all double peaks in a given sequence being accurately assigned IUPAC degeneracy codes.…”
Section: Resultsmentioning
confidence: 99%
“…37 Alternative adaptations were observed in the affected hip joint during early stance phase, where increased work was thought to propel the body forward from the rear. 44,45 In terms of prosthetic fitting, devices used by subjects with TMT and Lisfranc amputations (toe fillers, slipper sockets, and ankle-foot orthosis), which were designed to allow relatively unrestricted ankle motion, did not improve ankle function compared to the clamshell patellar tendon bearing (PTB) prosthesis used by subjects with Chopart amputations in whom ankle motion was eliminated.…”
Section: Discussionmentioning
confidence: 99%