A nanoliter fluidic platform for large-scale single nucleotide polymorphism genotyping
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
Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data [PDF]
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
Temperature Switch PCR (TSP): Robust assay design for reliable amplification and genotyping of SNPs
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
doaj +1 more source
High quality genome-wide genotyping from archived dried blood spots without DNA amplification. [PDF]
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
doaj +1 more source
Methods for Scarless, Selection-Free Generation of Human Cells and Allele-Specific Functional Analysis of Disease-Associated SNPs and Variants of Uncertain Significance. [PDF]
With the continued emergence of risk loci from Genome-Wide Association studies and variants of uncertain significance identified from patient sequencing, better methods are required to translate these human genetic findings into improvements in public ...
Carvajal-Carmona, Luis G +4 more
core +4 more sources
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
Research note: A low-density SNP genotyping panel for Chinese native chickens. [PDF]
The efficiency of molecular breeding largely depends on the cost of genotyping, which plays an important role in breeding and population genetic studies.
Wang J +10 more
europepmc +2 more sources
Novel single nucleotide polymorphism-based assay for genotyping Mycobacterium avium subsp. paratuberculosis [PDF]
Typing of Mycobacterium avium subspecies paratuberculosis strains presents a challenge, since they are genetically monomorphic and traditional molecular techniques have limited discriminatory power.
Bryant, Josephine +6 more
core +2 more sources
Development of a high-density sub-species-specific targeted SNP assay for Rocky Mountain bighorn sheep (Ovis canadensis canadensis) [PDF]
Due 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
doaj +2 more sources
SNP Genotyping and ApoE Genotyping v1
This protocol details the steps for DNA extraction from a human blood sample, quality control, and SNP and APOE genotyping. The protocol has been adapted from the PRoBaND SNP Genotyping and ApoE Genotyping Protocol. The overall protocol for PRoBaND /Tracking Parkinson’s is published: Malek, N., Swallow, D. M. A., Grosset, K. A., Lawton, M.
Huw Morris +3 more
openaire +1 more source

