Results 41 to 50 of about 215,087 (323)

Mapping the genetic architecture of gene expression in human liver [PDF]

, 2008
Genetic variants that are associated with common human diseases do not lead directly to disease, but instead act on intermediate, molecular phenotypes that in turn induce changes in higher-order disease traits.
Avila-Campillo, I, Chudin, E, Derry, J, Drake, TA, Guengerich, FP, GuhaThakurta, D, Hao, K, Johnson, JM, Kasarskis, A, Kruger, MJ, Lamb, J, Lum, PY, Lusis, AJ, Mehrabian, M, Millstein, J, Molony, C, Rohl, CA, Rushmore, TH, Schadt, EE, Schuetz, E, Sieberts, S, Smith, RC, Storey, JD, Strom, SC, Suver, C, Ulrich, R, Van Nas, A, Wang, S, Yang, X, Zhang, B, Zhu, J   +30 more
core   +3 more sources

Reference-free SNP calling: improved accuracy by preventing incorrect calls from repetitive genomic regions

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, Zhao Xiqiang, Fu Xiaoteng, Jiao Wenqian, Wang Nannan, Zhang Lingling, Hu Xiaoli, Wang Shi, Bao Zhenmin   +8 more
doaj   +1 more source

Inference of kinship coefficients from Korean SNP genotyping data [PDF]

BMB Reports, 2013
The determination of relatedness between individuals in afamily is crucial in analysis of common complex diseases. Wepresent a method to infer close inter-familial relationshipsbased on SNP genotyping data and provide the relationshipcoefficient of ...
Seong-Jin Park, Jin Ok Yang, Sang Cheol Kim, Jekeun Kwon, Sanghyuk Lee, Byungwook Lee   +5 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

Genotyping of SNPs in a Polyploid Genome by Pyrosequencing™ [PDF]

BioTechniques, 2002
Single-nucleotide polymorphisms (SNPs) are the most frequent DNA sequence variations, and they have become increasingly popular markers for association studies. Allelic discrimination of the mostly binary SNPs has been reported for diploid species, mainly the human, but not for polyploid genomes such as the agriculturally important crops.
Christiane Gebhardt, Andreas Premstaller, Andreas M. Rickert, Peter J. Oefner   +3 more
openaire   +4 more sources

Sequence-based genotyping for marker discovery and co-dominant scoring in germplasm and populations.

PLoS ONE, 2012
Conventional marker-based genotyping platforms are widely available, but not without their limitations. In this context, we developed Sequence-Based Genotyping (SBG), a technology for simultaneous marker discovery and co-dominant scoring, using next ...
Hoa T Truong, A Marcos Ramos, Feyruz Yalcin, Marjo de Ruiter, Hein J A van der Poel, Koen H J Huvenaars, René C J Hogers, Leonora J G van Enckevort, Antoine Janssen, Nathalie J van Orsouw, Michiel J T van Eijk   +10 more
doaj   +1 more source

Low-density genotype panel for both parentage verification and discovery in a multi-breed sheep population [PDF]

, 2019
peer-reviewedThe generally low usage of artificial insemination and single-sire mating in sheep, compounded by mob lambing (and lambing outdoors), implies that parentage assignment in sheep is challenging.
Berry, Donagh, McDermott, K., McHugh, Noirin, O’Brien, A.C., Wall, E.   +4 more
core   +1 more source

Conflicting Results in SNP Genotype Assessment

BioTechniques, 2007
Single nucleotide polymorphisms (SNPs) are highly abundant in the genome and especially useful in the search for disease susceptibility genes via population-based association or linkage studies. Therefore, there is a strong need for high throughput and reliable methodologies to assess the SNP genotypes. Despite an unambiguous result of an SNP analysis,
Hansen, Lise Lotte, Madsen, Bo Eskerod, Pedersen, Kristina, Wiuf, Carsten   +3 more
openaire   +5 more sources

Comparison of TaqMan, KASP and rhAmp SNP genotyping platforms in hexaploid wheat.

PLoS ONE, 2019
Advances in high-throughput genotyping enable the generation of genome-scale data much more easily and at lower cost than ever before. However, small-scale and cost-effective high-throughput single-nucleotide polymorphism (SNP) genotyping technologies ...
Habtamu Ayalew, Pak Wah Tsang, Chenggen Chu, Junzhou Wang, Shuyu Liu, Caifu Chen, Xue-Feng Ma   +6 more
doaj   +1 more source

High-throughput genotyping of single nucleotide polymorphisms with rolling circle amplification

BMC Genomics, 2001
Background Single nucleotide polymorphisms (SNPs) are the foundation of powerful complex trait and pharmacogenomic analyses. The availability of large SNP databases, however, has emphasized a need for inexpensive SNP genotyping methods of commensurate ...
Sun Zhenyu, Zong Qiuling, Grimwade Brian, Kumar Gyanendra, Bandaru Rajanikanta, Alsmadi Osama, Dean Frank B, Driscoll Mark D, Hosono Seiyu, Faruqi A Fawad, Du Yuefen, Kingsmore Stephen, Knott Tim, Lasken Roger S   +13 more
doaj   +1 more source