Results 351 to 360 of about 1,221,818 (402)

Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum. [PDF]

Brain
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B.   +36 more
europepmc   +1 more source

Evaluating the Antigen and Eplet Accuracy of DQA1 Imputations With the HaploSFHI Two-Field HLA Typing Inference Tool. [PDF]

HLA
Lhotte R, Murphey C, Tafulo S, Turner D, Usureau C, Devriese M, SFHI Consortium, Letort V, Taupin JL.   +8 more
europepmc   +1 more source

Understanding the population structure ofMoraxella catarrhalisusing core genome multilocus sequence typing (cgMLST) and a life identification number (LIN) code classification system

Yassine I, Jolley KA, Bray JE, Jansen van Rensburg MJ, Patel F, Sheppard AE, Zar HJ, Allen V, Tow LA, Maiden MC, Nicol MP, Brueggemann AB.   +11 more
europepmc   +1 more source

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Performing the exact test of Hardy-Weinberg proportion for multiple alleles.

Biometrics, 1992
The Hardy-Weinberg law plays an important role in the field of population genetics and often serves as a basis for genetic inference. Because of its importance, much attention has been devoted to tests of Hardy-Weinberg proportions (HWP) over the decades.
Sun-Wei Guo, E. Thompson
semanticscholar   +1 more source

Mating of Alleles [PDF]

, 1994
Genetic theory is used in two basic commercial ways today: animal and plant breeding in agriculture and in the field of conservation biology. In the former, the basic strategy is to identify and eliminate undesirable, susceptible alleles by selective breeding. The susceptibility can be to a particular disease or perhaps it is manifested as a structural
Bruce Hannon, Matthias Ruth
openaire   +1 more source

Estimating Allele Frequencies [PDF]

, 2011
Methods of estimating allele frequencies from data on unrelated and related individuals are described in this chapter. For samples of unrelated individuals with simple codominant markers, the natural estimator of allele frequencies can be used. For genetic data on related individuals, maximum likelihood estimation (MLE) can be applied to compute allele
Indra Adrianto, Courtney G. Montgomery
openaire   +3 more sources

The Missing ApoE Allele

Annals of Human Genetics, 2007
SummaryThe human apoE gene (APOE, GenBank accession AF261279) shows a common polymorphism, with the three ɛ2, ɛ3 and ɛ4 alleles resulting from the haplotypes of two C→T SNPs. However, whereas the three common T‐T, T‐C and C‐C haplotypes corresponding to the ɛ2, ɛ3 and ɛ4 alleles are well known, the last C‐T haplotype (GenBank accession AY077451 ...
Antonio Daniele, Davide Seripa, L. Bisceglia, Monica Rinaldi, G. Dal Forno, Maria Giovanna Matera, Carlo Masullo, Vincenzo Solfrizzi, R. M. Corbo, Carolina Gravina, Andrea Pilotto, Francesco Panza, Alessandra Bizzarro, Vito Michele Fazio, Vito Michele Fazio, Bruno Dallapiccola   +15 more
openaire   +7 more sources

HLA common and well‐documented alleles in China

HLA, 2018
The American Society for Histocompatibility and Immunogenetics HLA common and well‐documented (CWD) catalog, CWD 2.0.0 catalog and European Federation for Immunogenetics (EFI) CWD catalog have been published, which are useful for improving the accuracy ...
Y. He, J. Li, W. Mao, D. Zhang, M. Liu, X. Shan, B. Zhang, C. Zhu, J. Shen, Z. Deng, Z. Wang, W. Yu, Q. Chen, W. Guo, P. Su, R. Lv, G. Li, G. Li, B. Pei, L. Jiao, G. Shen, Y. Liu, Z. Feng, Y. Su, Y. Xie, W. Di, X. Liu, X. Yang, J. Wang, J. Qi, Q. Liu, Y. Han, J. He, J. Cai, Z. Zhang, F. Zhu, D. Du   +36 more
semanticscholar   +1 more source

ALLELISM, NON-ALLELISM, AND GENETIC COMPOUNDS AMONG THE MUCOPOLYSACCHARIDOSES

The Lancet, 1972
Abstract On the basis of cellular studies it is proposed that the genes for the strikingly dissimilar Hurler and Scheie syndromes are allelic, and that genetic compounds of the Hurler and Scheie genes occur, presenting an intermediate phenotype. Two clinically distinct forms of X-linked mucopolysaccharidosis (Hunter syndrome) are probably determined ...
Victor A. McKUSICK, Victor A. McKUSICK, Irene E. Hussels, Irene E. Hussels, Elizabeth F. Neufeld, Elizabeth F. Neufeld, Roger E. Stevenson, Roger E. Stevenson, R. Rodney Howell, R. Rodney Howell   +9 more
openaire   +3 more sources

Allelic histories: positive selection on a HIV-resistance allele

Trends in Ecology & Evolution, 2004
The CCR5-Delta32 allele crucially determines the course of HIV infection and appears to be highly protective against the disease. Population genetic studies suggest that the allele has been under positive selection in Europe in the past. In a recent paper, Alison Galvani and Montgomery Slatkin collate the available evidence and use a mathematical model
Hilde Wilkinson-Herbots, Michael P. H. Stumpf   +1 more
openaire   +3 more sources