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Heterozygote detection identifies heterozygous base positions or small insertions/deletions in genomic DNA. This technique is of great utility in locating mutations or polymorphisms in diploid organisms. The technique is widely used to identify carriers of a given trait. Subsequently, mutation profiling precisely and comprehensively defines the genetic changes responsible for disease development or susceptibility at the molecular level.
Accurate heterozygous indel mutation detection on an Applied Biosystems Genetic Analyzer.
Workflow for Obtaining High Quality Sequencing Data Application Note
Protocol Summary: VariantSEQr™ Resequencing System
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Variant Reporter® Software Product Bulletin
Scientific Poster:
Direct Sequencing Quality Control: A Novel Software Approach to Reducing Researcher Labor
A Fast Run Module Optimized for Medical Sequencing
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