Genotyping for platelet-specific antigens: techniques for the detection of single nucleotide polymorphisms
نویسندگان
چکیده
منابع مشابه
Methods for genotyping single nucleotide polymorphisms.
One of the fruits of the Human Genome Project is the discovery of millions of DNA sequence variants in the human genome. The majority of these variants are single nucleotide polymorphisms (SNPs). A dense set of SNP markers opens up the possibility of studying the genetic basis of complex diseases by population approaches. In all study designs, a large number of individuals must be genotyped wit...
متن کاملA novel procedure for efficient genotyping of single nucleotide polymorphisms.
Due to the surge in interest in using single nucleotide polymorphisms (SNPs) for genotyping a facile and affordable method for this is an absolute necessity. Here we introduce a procedure that combines an easily automatable single tube sample preparation with an efficient high throughput mass spectrometric analysis technique. Known point mutations or single nucleotide polymorphisms are easily a...
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Recent advances in DNA sequencing techniques have led to an increase in the identification of single nucleotide polymorphisms (SNPs) in BRCA1 and BRCA2 genes, but no further information regarding the deleterious probability of many of them is available (Variants of Unknown Significance/VUS). As a result, in the current study, different sequence- and structure-based computation...
متن کاملIncorporating genotyping uncertainty in haplotype inference for single-nucleotide polymorphisms.
The accuracy of the vast amount of genotypic information generated by high-throughput genotyping technologies is crucial in haplotype analyses and linkage-disequilibrium mapping for complex diseases. To date, most automated programs lack quality measures for the allele calls; therefore, human interventions, which are both labor intensive and error prone, have to be performed. Here, we propose a...
متن کاملAn efficient procedure for genotyping single nucleotide polymorphisms.
Analysis of single nucleotide polymorphisms (SNPs) has been and will be increasingly utilized in various genetic disciplines, particularly in studying genetic determinants of complex diseases. Such studies will be facilitated by rapid, simple, low cost and high throughput methodologies for SNP genotyping. One such method is reported here, named tetra-primer ARMS-PCR, which employs two primer pa...
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ژورنال
عنوان ژورنال: Vox Sanguinis
سال: 2002
ISSN: 0042-9007
DOI: 10.1046/j.1423-0410.2002.00187.x