Results 181 to 190 of about 4,000 (206)

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin. [PDF]

Front Genet
Subbotin D, Ionova S, Marakhonov A, Saifullina E, Borovikov A, Akhmadeeva L, Chausova P, Ryzhkova O, Zinchenko R, Kutsev S, Murtazina A.   +10 more
europepmc   +1 more source

Exploring Runs of Homozygosity and Heterozygosity in Sheep Breeds Maintained in Poland. [PDF]

Genes (Basel)
Szmatola T, Ropka-Molik K, Jasielczuk I, Kawęcka A, Gurgul A.   +4 more
europepmc   +1 more source

Associations of autozygosity with a broad range of human phenotypes

, 2021
openaire   +1 more source

Founder mutations and rare disease in the Arab world.

Dis Model Mech
Marafi D.
europepmc   +1 more source

Nanoparticle enriched mass spectrometry proteomics in British South Asians identifies novel variant-protein-disease mechanisms

Pietzner M, Williamson A, Hunt KA, Koprulu M, Kohleick L, Demircan K, Genes & Health Research Team, Finer S, Zanini JC, van Heel DA, Langenberg C.   +10 more
europepmc   +1 more source

214. Are autozygosity estimates from imputed genotypes reliable?

Proceedings of 12th World Congress on Genetics Applied to Livestock Production (WCGALP), 2022
Estimates of the inbreeding coefficient based on runs of homozygosity (FROH) are widely used in population genetics and livestock studies. The accuracy of FROH estimates is determined in part by the density of the genotyping chip. Compared with high density (HD) chips, low density (LD) chips tend to overestimate FROH in shorter homozygous segments.
M. Ferenčaković1, I. Curik, J.F. Garcia, J. Sölkner, R. Carvalheiro   +4 more
semanticscholar   +3 more sources

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Estimation of microsatellite-based autozygosity and its correlation with pedigree inbreeding coefficient in crossbred cattle

Animal Biotechnology, 2023
In countries where farming is largely subsistence, no pedigree records of farm animals are maintained at farmers’ herd and scientific mating plans are not observed which leads to the accumulation of inbreeding and loss of production potential ...
K. Elavarasan, Subodh Kumar, Swati Agarwal, A. Vani, Rekha Sharma, Sanjeev Kumar, A. Chauhan, N. Sahoo, M. Verma, G. K. Gaur   +9 more
semanticscholar   +1 more source

Runs of homozygosity reveal genome‐wide autozygosity in Italian sheep breeds

Animal Genetics, 2018
SummaryThe availability of dense single nucleotide polymorphism (SNP) assays allows for the determination of autozygous segments based on runs of consecutive homozygous genotypes (ROH). The aim of the present study was to investigate the occurrence and distribution of ROH in 21 Italian sheep breeds using medium‐density SNP genotypes in order to ...
S. Mastrangelo, E. Ciani, M. T. Sardina, G. Sottile, Fabio Pilla, B. Portolano   +5 more
semanticscholar   +4 more sources

Comparative insights into X-chromosome and autosomal autozygosity in zebu cattle

The Nucleus
Kusum Mehla, Rangasai Chandra Goli, Dibyasha Kar, I. Ganguly, Sanjeev Singh, S. Dixit   +5 more
semanticscholar   +2 more sources

Autozygosity Mapping with Exome Sequence Data

Human Mutation, 2012
Autozygosity mapping is a powerful method for the identification of recessively inherited disease genes using small inbred families. Typically, microarray SNP genotype data are first used to identify autozygous regions as extended runs of homozygous genotypes.
Carr, Ian M., Bhaskar, Sanjeev, O' Sullivan, James, Aldahmesh, Mohammed A., Shamseldin, Hanan E., Markham, Alexander F., Bonthron, David T., Black, Graeme, Alkuraya, Fowzan S., O'Sullivan, James   +9 more
openaire   +2 more sources