homozygosity mapping
Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Cumbs homologue 1) Mutations in Iranian Retinal Degeneration Families
... Background: Inherited retinal diseases (IRDs) are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual ...
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The First Iranian Case of Mucopolysaccharidosis IIIC: Use of Homozygosity Mapping in a Consanguineous Pedigree
... With that in mind, homozygosity mapping methods can be a promising approach to narrow down MPSIII subtype diagnosis. In next step, direct sequencing can be used for confirming diagnosis. Here, we report a ...
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Genetic determination of the left-right axis in man: A homozygosity mapping study of heterotaxia in an inbred population
... Laterality disturbance is common in the Pakistani Muslim community in the Leeds Manchester area. This population orginates from the Mirpur Region o f Kashmir and is highly inbred. The segregation ratio for complex heart ...
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KinSNP software for homozygosity mapping of disease genes using SNP microarrays
... for mapping the recessive gene ...for homozygosity mapping, compared with microsatel- lites, because of the much higher density of markers they ...perform homozygosity mapping using SNP ...
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Rapid positional cloning of zebrafish mutations by linkage and homozygosity mapping using whole genome sequencing
... Forward genetic screens in zebrafish have identified >9000 mutants, many of which are potential disease models. Most mutants remain molecularly uncharacterized because of the high cost, time and labor investment ...
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Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping
... disequilibrium mapping offers a method of narrowing the candidate interval in populations with well-defined founding dates including some Jewish populations (34, ...
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Molecular genetic studies of deafness
... using homozygosity mapping and work towards the identification of the causative ...The mapping strategy employed was a genome search in combination with microsatellite analysis of candidate ...the ...
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Exploiting the Extraordinary Genetic Polymorphism of Ciona for Developmental Genetics with Whole Genome Sequencing
... mozygosity mapping with 10-kb windows identified a peak- homozygosity window 25 kb from the causative ...found homozygosity mapping with 20-kb windows would have mapped peak homozygos- ity ...
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... makes South Asian populations suitable for identification of genetic mutations through homozygosity mapping. In fact, BEST1, CC2D2A, IMPG2, ZNF513, CNGA1 AND PRCD were among the retinal genes first ...
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A mutation in the nucleoporin 107 gene causes XX gonadal dysgenesis
... insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of ...
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Runs of Homozygosity as Footprints of Selection in the Norik of Muran Horse Genome
... Modern horse breeds represents heterogeneous populations selected for specific appearance and performance traits. In general, genomic regions under strong selection pressure due to specific breeding for traits of ...
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Runs of homozygosity implicate autozygosity as a schizophrenia risk factor
... of homozygosity in genome-wide SNP data to estimate the proportion of the autosome that exists in autozygous tracts in 9,388 cases with schizophrenia and 12,456 ...
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EVIDENCE FOR BALANCING SELECTION AT HLA
... As a result of this consideration of possible causes for the observed reduced homozygosity it appears that some form of symmetrical balancing selection, and not stratificat[r] ...
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RESEARCH ARTICLE Association of TP53 codon 72 polymorphism in women suffering from endometriosis from Lahore, Pakistan
... arginine homozygosity is reported to give protection against endometriosis, whereas arginine/prolineheterozygosity and prolinehomozygosity is reported to be positively associated with ...
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VANUATU School Mapping Report - 2012
... Maps are created at different scales with the projection of longitude/latitude (WGS 84). Users of this publication are advised to note that the boundaries contained in this publication refer to administrative boundaries ...
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LINS, a modulator of the WNT signaling pathway, is involved in human cognition
... Figure 2 Genomic mapping and genetic testing of an autosomal recessive intellectual disability phenotype. A. Genotyping the whole genome of both parents (I1 and I2) and affected children (II1 and II2) detected a ...
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Joint Estimates of Heterozygosity and Runs of Homozygosity for Modern and Ancient Samples
... of homozygosity found in the genomes of particularly inbred individuals and of domestic animals can skew estimates of genome-wide heterozygosity ...of homozygosity and genome-wide heterozygosity levels are ...
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Genome-wide homozygosity signature and risk of Hodgkin lymphoma.
... common homozygosity, from autozygosity, uniparental isodisomy or hemizygosity, play a significant role in defining the risk of devel- oping HL in a predominantly outbred ...
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EXPERIMENTS ON THE EFFECTS OF HOMOZYGOSITY AND HETEROZYGOSITY ON THE RATE OF DEVELOPMENT IN DROSOPHILA MELANOGASTER
... We find it valid to lay more emphasis on the results of the main experiments than on the additional experiments, and it seems, hence, safe to conclude that female larvae which [r] ...
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Homozygosity disequilibrium associated with treatment response and its methylation regulation
... the homozygosity association study for the TG response to fenofibrate, GEE analysis was per- formed to examine the relationship between homozygos- ity intensities and methylation response to fenofibrate with ...
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