Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data [PDF]
Genomics & Informatics, 2012 In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery.
Soon-Young Kim +2 more
doaj +1 more source
A nanoliter fluidic platform for large-scale single nucleotide polymorphism genotyping
BioTechniques, 2009 Discovery, evaluation, and understanding the biological relevance of single nucleotide polymorphisms (SNPs) and their associated phenotypes is relevant to many applications, including human disease diagnostics, pathogen detection, and identification of ...
Douglas G. Roberts +7 more
doaj +1 more source
Clinical application of high throughput molecular screening techniques for pharmacogenomics. [PDF]
, 2011 Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples.
Schrijver, Iris, Wiita, Arun P
core +1 more source
Temperature Switch PCR (TSP): Robust assay design for reliable amplification and genotyping of SNPs
BMC Genomics, 2009 Background Many research and diagnostic applications rely upon the assay of individual single nucleotide polymorphisms (SNPs). Thus, methods to improve the speed and efficiency for single-marker SNP genotyping are highly desirable.
Mather Diane E +2 more
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High quality genome-wide genotyping from archived dried blood spots without DNA amplification. [PDF]
PLoS ONE, 2013 Spots of blood are routinely collected from newborn babies onto filter paper called Guthrie cards and used to screen for metabolic and genetic disorders. The archived dried blood spots are an important and precious resource for genomic research.
Krystal R St Julien +6 more
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A saturated genetic linkage map of autotetraploid alfalfa (Medicago sativa L.) developed using genotyping-by-sequencing is highly syntenous with the Medicago truncatula genome. [PDF]
, 2014 A genetic linkage map is a valuable tool for quantitative trait locus mapping, map-based gene cloning, comparative mapping, and whole-genome assembly. Alfalfa, one of the most important forage crops in the world, is autotetraploid, allogamous, and highly
Acharya, Ananta +5 more
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IEEE Access, 2018 A genetic algorithm (GA) combines the restriction enzyme mining core of single nucleotide polymorphism (SNP) restriction fragment length polymorphism (RFLP) to design polymerase chain reaction (PCR)-RFLP primer pairs for SNP-based genotyping with ...
Yu-Huei Cheng +3 more
doaj +1 more source
The Invader® assay for SNP genotyping [PDF]
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, 2005 The Invader assay uses a structure-specific flap endonuclease (FEN) to cleave a three-dimensional complex formed by hybridization of allele-specific overlapping oligonucleotides to target DNA containing a single nucleotide polymorphism (SNP) site. Annealing of the oligonucleotide complementary to the SNP allele in the target molecule triggers the ...
openaire +2 more sources
Development of a high-density sub-species-specific targeted SNP assay for Rocky Mountain bighorn sheep (Ovis canadensis canadensis) [PDF]
PeerJDue to their abundance and relative ease of genotyping, single nucleotide polymorphisms (SNPs) are a commonly used molecular marker for contemporary population genetic and genomic studies. A high-density and cost-effective way to type SNP loci is Allegro
Samuel Deakin, David W. Coltman
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2b-RAD genotyping for population genomic studies of Chagas disease vectors: Rhodnius ecuadoriensis in Ecuador [PDF]
, 2017 Background: Rhodnius ecuadoriensis is the main triatomine vector of Chagas disease, American trypanosomiasis, in Southern Ecuador and Northern Peru.
Andersson, Björn +10 more
core +4 more sources