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Updated: Jul 10, 2026

13:33
Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
TraceHaplotyper: using direct sequencing to determine the phase of an indel followed by biallelic SNPs
Yanir Seroussi1, Eyal Seroussi
1Technion-Israel Institute of Technology, Haifa, Israel. seroussi@agri.huji.ac.il
Biotechniques
|November 21, 2007
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.

