Results 41 to 50 of about 220,745 (323)

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

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

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

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.
Andreas M. Rickert, Andreas Premstaller, Christiane Gebhardt, Peter J. Oefner   +3 more
openaire   +3 more sources

Genomic Analysis Using Bayesian Methods under Different Genotyping Platforms in Korean Duroc Pigs

Animals, 2020
Genomic evaluation has been widely applied to several species using commercial single nucleotide polymorphism (SNP) genotyping platforms. This study investigated the informative genomic regions and the efficiency of genomic prediction by using two ...
Jungjae Lee, Yongmin Kim, Eunseok Cho, Kyuho Cho, Soojin Sa, Youngsin Kim, Jungwoo Choi, Jinsoo Kim, Junki Hong, Taejeong Choi   +9 more
doaj   +1 more source

Using GWAS Data to Identify Copy Number Variants Contributing to Common Complex Diseases

, 2010
Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional variation ...
Teslovich, Tanya M., Zöllner, Sebastian
core   +1 more source

Improved Imputation of Common and Uncommon Single Nucleotide Polymorphisms (SNPs) with a New Reference Set [PDF]

, 2011
Statistical imputation of genotype data is an important technique for analysis of genome-wide association studies (GWAS). We have built a reference dataset to improve imputation accuracy for studies of individuals of primarily European descent using ...
Amy Hutchinson, Ann W. Hsing, Brian E. Henderson, Charles C. Chung, Christopher M. Haiman, Daniel Stram, Demetrius Albanes, Jarmo Virtamo, Jennifer L. Stone, Joshua Sampson, Kevin Jacobs, Lauren R. Teras, Margaret Tucker, Mark P. Purdue, Meredith Yeager, Michael A. Eberle, Nilanjan Chatterjee, Phil Taylor, Sonja I. Berndt, Stephen Chanock, Susan M. Gabstur, W. Ryan Diver, Xiang Deng, Zhaoming Wang   +23 more
core   +2 more sources

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   +4 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