PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing.
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Summary
A new computer program known as PolyPhred is described that automatically detects the presence of heterozygous single nucleotide substitutions by fluorescencebased sequencing of PCR products and generates a high throughput system for detecting DNA polymorphisms and mutations by large scale fluorescence-based resequencing.
- Type
- article
- Published
- 1997-07-01
- Cited by
- 1,010
- References
- 39
- Access
- Open access
- OpenAlex
- https://openalex.org/W1971307410
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:10312815
Keywords
Biology, DNA sequencing, Genotyping, Genetics, Computational biology
References
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- Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products.
- Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.
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- Applications of heteroduplex analysis for mutation detection in disease genes
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- Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes.
Cited by
- A 4-Mb high-density single nucleotide polymorphism-based map around human APOE.
- Characterization of single-nucleotide polymorphisms in coding regions of human genes
- Human-chimpanzee DNA sequence variation in the four major genes of the renin angiotensin system.
- First report on chicken genes and chromosomes 2000
- Lewy bodies and parkinsonism in families with parkin mutations
- Catalog of 668 SNPs detected among 31 genes encoding potential drug targets on the cell surface
- POSA: Perl Objects for DNA Sequencing Data Analysis
- Human SULT1A3 pharmacogenetics: gene duplication and functional genomic studies.
- Identification of a novel HLA-DMB allele (DMB*0107) in the Korean population.
- Assessment of multiple displacement amplification for polymorphism discovery and haplotype determination at a highly polymorphic locus, MC1R
- Detection and Genotyping of SHV β-Lactamase Variants by Mass Spectrometry after Base-Specific Cleavage of In Vitro-Generated RNA Transcripts
- New variants in the CACNA1H gene identified in childhood absence epilepsy.
- Asymmetric allele-specific expression in relation to developmental variation and drought stress in barley hybrids.
- Positive association of Phencyclidine‐responsive genes, PDE4A and PLAT, with schizophrenia
- Association between Knops blood group polymorphisms and susceptibility to malaria in an endemic area of the Brazilian Amazon
- Detecting polymorphisms in human longevity studies: HLA typing and SNP genotyping by amplicon sequencing.
- Multilocus analyses reveal little evidence for lineage‐wide adaptive evolution within major clades of soft pines (Pinus subgenus Strobus)
- SCCRO3 (DCUN1D3) Antagonizes the Neddylation and Oncogenic Activity of SCCRO (DCUN1D1)*
- Small ruminant lentivirus genetic subgroups associate with sheep TMEM154 genotypes
- Detection of single nucleotide variations.
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