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
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
doaj +2 more sources
Narrowing the wingless-2 mutation to a 227 kb candidate region on chicken chromosome 12. [PDF]
, 2018 Wingless-2 (wg-2) is an autosomal recessive mutation in chicken that results in an embryonic lethal condition. Affected individuals exhibit a multisystem syndrome characterized by absent wings, truncated legs, and craniofacial, kidney, and feather ...
Cheng, HH +7 more
core +1 more source
A machine learning approach for missing persons cases with high genotyping errors
Frontiers in Genetics, 2022 Estimating the relationships between individuals is one of the fundamental challenges in many fields. In particular, relationship.ip estimation could provide valuable information for missing persons cases.
Meng Huang +8 more
doaj +1 more source
Diversity, 2020 Single nucleotide polymorphism (SNP) genotyping arrays are powerful tools to measure the level of genetic polymorphism within a population. The coming of next-generation sequencing technologies led to identifying thousands and millions of SNP loci useful
Davide Bianchi +2 more
doaj +1 more source
High-Density Genotypes of Inbred Mouse Strains: Improved Power and Precision of Association Mapping. [PDF]
, 2015 Human genome-wide association studies have identified thousands of loci associated with disease phenotypes. Genome-wide association studies also have become feasible using rodent models and these have some important advantages over human studies ...
Churchill, Gary A +6 more
core +1 more source
Joint Haplotype Assembly and Genotype Calling via Sequential Monte Carlo Algorithm [PDF]
, 2015 Genetic variations predispose individuals to hereditary diseases, play important role in the development of complex diseases, and impact drug metabolism. The full information about the DNA variations in the genome of an individual is given by haplotypes,
Ahn, Soyeon, Vikalo, Haris
core +3 more sources
Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models. [PDF]
, 2020 Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder of unknown etiology. Clinical signs of neurological deficits develop within the first year of life in vitamin E (vitE) deficient ...
Dahlgren, Anna R +6 more
core +1 more source
SNP Genotyping and ApoE Genotyping v1
, 2021 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
Biology Direct, 2012 Background Single nucleotide polymorphisms (SNPs) are the most abundant type of genetic variation in eukaryotic genomes and have recently become the marker of choice in a wide variety of ecological and evolutionary studies.
Dou Jinzhuang +8 more
doaj +1 more source