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Pitfalls in Homozygosity Mapping [PDF]
The American Journal of Human Genetics, 2000 There is much interest in use of identity-by-descent (IBD) methods to map genes, both in Mendelian and in complex disorders. Homozygosity mapping provides a rapid means of mapping autosomal recessive genes in consanguineous families by identifying chromosomal regions that show homozygous IBD segments in pooled samples. In this report, we point out some
Miano MG +10 more
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Genome‐Wide Homozygosity Predicts Inbreeding Depression in the Hihi/Stitchbird (Notiomystis cincta) Better Than Realised Load [PDF]
Evolutionary ApplicationsPopulation declines result in increasingly small populations, which often experience an increase in inbreeding. Inbreeding may be negatively associated with fitness traits like survival and reproduction, that is, inbreeding depression, and is therefore ...
Hui Zhen Tan +8 more
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Runs of Homozygosity in European Populations [PDF]
The American Journal of Human Genetics, 2008 Estimating individual genome-wide autozygosity is important both in the identification of recessive disease variants via homozygosity mapping and in the investigation of the effects of genome-wide homozygosity on traits of biomedical importance. Approaches have tended to involve either single-point estimates or rather complex multipoint methods of ...
McQuillan, Ruth +20 more
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Organ allocation and transplant equity in Brazil: the hidden burden of HLA homozygosity and hypersensitization [PDF]
Brazilian Journal of NephrologyIntroduction: Kidney transplantation remains the most cost-effective treatment for end-stage renal disease (ESRD); however, persistent organ scarcity and immunological barriers contribute to prolonged waiting times and inequitable access. Human leukocyte
Augusto Cesar Soares dos Santos Júnior +4 more
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Extended homozygosity is not usually due to cytogenetic abnormality
BMC Genetics, 2007 Background Previous studies have reported frequent stretches of homozygosity in human subjects but have failed to clarify whether these are due to cytogenetic abnormalities or to autozygosity.
Curtis David
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Long runs of homozygosity are associated with Alzheimer’s disease [PDF]
Translational Psychiatry, 2021 Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer’s disease (AD); however, their search has been ...
Sonia Moreno-Grau +45 more
doaj +3 more sources
, 2006 The mapping of genes involved in rare recessive disorders in large outbred population is often a difficult task because of the lack of families with multiple affected individuals. Homozygosity mapping is an efficient gene mapping method applicable to rare recessive disorders in inbred populations.
Génin, Emmanuelle, Todorov, Alexandre
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Runs of homozygosity do not influence survival to old age. [PDF]
PLoS ONE, 2011 Runs of homozygosity (ROH) are extended tracts of adjacent homozygous single nucleotide polymorphisms (SNPs) that are more common in unrelated individuals than previously thought. It has been proposed that estimating ROH on a genome-wide level, by making
Maris Kuningas +6 more
doaj +3 more sources
Patterns of homozygosity in insular and continental goat breeds [PDF]
Genetics Selection Evolution, 2018 Background Genetic isolation of breeds may result in a significant loss of diversity and have consequences on health and performance. In this study, we examined the effect of geographic isolation on caprine genetic diversity patterns by genotyping 480 ...
Taina F. Cardoso +13 more
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Genome-wide patterns of homozygosity provide clues about the population history and adaptation of goats [PDF]
Genetics Selection Evolution, 2018 Background Patterns of homozygosity can be influenced by several factors, such as demography, recombination, and selection. Using the goat SNP50 BeadChip, we genotyped 3171 goats belonging to 117 populations with a worldwide distribution.
Francesca Bertolini +6 more
doaj +2 more sources