Multiplexing Schemes for Generic SNP Genotyping Assays

Multiplexing Schemes for Generic SNP Genotyping Assays 1

Association studies in populations relate genomic variation among individuals with medical condition. Key to these studies is the development of efficient and affordable genotyping techniques. Generic genotyping assays are independent of the target SNPs and offer great flexibility in the genotyping process. Efficient use of such assays calls for identifying sets of SNPs that can be interrogated...

Designing Optimally Multiplexed SNP Genotyping Assays

We consider the task of SNP (Single Nucleotide Polymorphism) genotyping. In many studies, genotyping of a large number of SNP must be performed. Multiple SNPs can be genotyped together in the same assay (a process called multiplexed genotyping), provided they adhere to some constraints. We address the optimization problem of designing assays that maximize the number of SNPs genotyped, subject t...

Multiplexed Pharmacogenetic Assays for SNP Genotyping: Tools and Techniques for Individualizing Patient Therapy

Multiplexing Algorithms for High-Throughput Genomic Based Assays

After the completion of the Human Genome Project has provided a blueprint of the DNA present in each human cell, genomics research is now focusing on the study of DNA variations that occur between individuals, seeking to understand how these variations confer susceptibility to common diseases such as diabetes or cancer. The most common form of genomic variation are the so called single nucleoti...

Acoustic detection of DNA conformation in genetic assays combined with PCR

Application of PCR to multiplexing assays is not trivial; it requires multiple fluorescent labels for amplicon detection and sophisticated software for data interpretation. Alternative PCR-free methods exploiting new concepts in nanotechnology exhibit high sensitivities but require multiple labeling and/or amplification steps. Here, we propose to simplify the problem of simultaneous analysis of...