TraceHaplotyper: using direct sequencing to determine the phase of an indel followed by biallelic SNPs.
نویسندگان
چکیده
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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ورودعنوان ژورنال:
- BioTechniques
دوره 43 4 شماره
صفحات -
تاریخ انتشار 2007