Comparison of ancestral, partial, and genomic inbreeding in a local pig breed to achieve genetic diversity
Sign Up to like & getrecommendations! Published in 2018 at "Conservation Genetics Resources"
DOI: 10.1007/s12686-018-1057-5
Abstract: Inbreeding is omnipresent and unavoidable in population genetics. High levels of inbreeding result in a reduction of genetic diversity and inbreeding depression. The avoidance of inbreeding is a primary goal for the management of small… read more here.
Keywords: inbreeding; genetic diversity; genomic inbreeding; ancestral partial ... See more keywords
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.11.011
Abstract: We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon… read more here.
Keywords: homozygous missense; missense mutations; spag17 wdr35; brain ... See more keywords
Association of HLA class I homozygosity with unfavorable clinical outcomes in patients with non-small cell lung cancer treated with chemo-immunotherapy or immunotherapy as first-line therapy
Sign Up to like & getrecommendations! Published in 2021 at "Heliyon"
DOI: 10.1016/j.heliyon.2021.e07916
Abstract: Background Homozygosity at HLA-I locus has been reported to be an unfavorable predictive biomarker of second-line or beyond immunotherapy in patients with different types of cancer. The linkage between HLA-I zygosity and survival in NSCLC… read more here.
Keywords: immunotherapy; line; first line; patients hla ... See more keywords
Runs of homozygosity: windows into population history and trait architecture
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DOI: 10.1038/nrg.2017.109
Abstract: Long runs of homozygosity (ROH) arise when identical haplotypes are inherited from each parent and thus a long tract of genotypes is homozygous. Cousin marriage or inbreeding gives rise to such autozygosity; however, genome-wide data… read more here.
Keywords: homozygosity windows; windows population; runs homozygosity; history ... See more keywords
Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
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DOI: 10.1038/s41436-018-0281-4
Abstract: PurposeOne of the greatest challenges currently facing those studying Mendelian disease is identifying the pathogenic variant from the long list produced by a next-generation sequencing test. We investigate the predictive ability of homozygosity mapping for… read more here.
Keywords: homozygosity; supporting evidence; evidence pathogenicity; mendelian disease ... See more keywords
HLA Homozygosity and Likelihood of Sensitization in Kidney Transplant Candidates
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DOI: 10.1097/txd.0000000000001312
Abstract: Background. Homozygosity for HLAs has been associated with adverse outcomes after viral infection as well as pregnancy-induced HLA sensitization. We sought to assess the relationship between HLA locus homozygosity and the level of HLA antibody… read more here.
Keywords: hla homozygosity; kidney transplant; homozygosity; sensitization ... See more keywords
Genome-wide SNP genotyping as a simple and practical tool to accelerate the development of inbred lines in outbred tree species: An example in cacao (Theobroma cacao L.)
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DOI: 10.1101/2022.06.12.495796
Abstract: Cacao is a globally important crop with a long history of domestication and selective breeding. Despite the increased use of elite clones by cacao farmers, worldwide plantations are established mainly using hybrid progeny material derived… read more here.
Keywords: inbred lines; genome wide; wide snp; homozygosity ... See more keywords
Runs of homozygosity: current knowledge and applications in livestock.
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DOI: 10.1111/age.12526
Abstract: This review presents a broader approach to the implementation and study of runs of homozygosity (ROH) in animal populations, focusing on identifying and characterizing ROH and their practical implications. ROH are continuous homozygous segments that… read more here.
Keywords: information; homozygosity; runs homozygosity; homozygosity current ... See more keywords
Genome-wide scan for runs of homozygosity in Asian wild boars and Anqing six-end-white pigs.
Sign Up to like & getrecommendations! Published in 2022 at "Animal genetics"
DOI: 10.1111/age.13250
Abstract: Inbreeding and loss of genetic diversity are serious problems in local Chinese pig breeds. Runs of homozygosity (ROHs) are contiguous lengths of homozygous genotypes that can provide information on inbreeding levels, mating schemes, selection pressure,… read more here.
Keywords: anqing six; asian wild; homozygosity; six end ... See more keywords
Assessing runs of Homozygosity: a comparison of SNP Array and whole genome sequence low coverage data
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DOI: 10.1186/s12864-018-4489-0
Abstract: BackgroundRuns of Homozygosity (ROH) are genomic regions where identical haplotypes are inherited from each parent. Since their first detection due to technological advances in the late 1990s, ROHs have been shedding light on human population… read more here.
Keywords: snp array; roh; low coverage; homozygosity ... See more keywords
Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0496-5
Abstract: BackgroundCurrently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations. The modern platforms also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions… read more here.
Keywords: chromosomal microarrays; contiguous stretches; long contiguous; microarrays cma ... See more keywords