Deleterious variation
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Deleterious BRCA1/2 (BRCA) mutation raises the risk for BRCA mutation-related malignancies, including breast, ovarian, prostate, and pancreatic cancer. Germline variation of BRCA exhibits substantial ethnical diversity.
13p vishanshan 27-06-2024 2 1 Download
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It is well known that the effective size of a population (Ne) is one of the major determinants of the amount of genetic variation within the population. However, it is unclear whether the types of genetic variations are also dictated by the effective population size.
12p vihagrid 30-01-2023 9 3 Download
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Admixture between early modern humans and Neandertals approximately 50,000–60,000 years ago has resulted in 1.5–4% Neandertal ancestry in the genomes of present-day non-Africans. Evidence is accumulating that some of these archaic alleles are advantageous for modern humans, while others are deleterious; however, the major mechanism by which these archaic alleles act has not been fully explored.
11p vialfrednobel 29-01-2022 14 0 Download
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Lethal recessive variation can cause prenatal death of homozygous offspring. Although usually present at low-frequency in populations, the impact on individual fitness can be substantial. Until recently, the presence of recessive embryonic lethal variation could only be measured indirectly through reduced fertility. In this study, we estimate the presence of genetic loci associated with both early and late termination of development during gestation in pigs from the wealth of genome data routinely generated by a commercial breeding company.
12p vilarryellison 29-10-2021 7 1 Download
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Mutation load is expected to be reduced in hybrids via complementation of deleterious alleles. While local adaptation of hybrids confounds phenotypic tests for reduced mutation load, it may be possible to assess variation in load by analyzing the distribution of putatively deleterious alleles. Here, we use this approach in the interior spruce (Picea glauca x P. engelmannii) hybrid complex, a group likely to suffer from high mutation load and in which hybrids exhibit local adaptation to intermediate conditions.
12p vilarryellison 29-10-2021 3 0 Download
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Recombination plays an important evolutionary role by breaking up haplotypes and shuffling genetic variation. This process impacts the ability of selection to eliminate deleterious mutations or increase the frequency of beneficial mutations in a population.
16p vijeeni2711 24-07-2021 14 0 Download
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Cancer is increasingly understood to arise in the context of dynamically evolving genomes with continuously generated variants subject to selective pressures. Diverse mutations have been identified in papillary thyroid carcinoma (PTC), but unifying theories underlying genomic change are lacking.
9p vimale2711 25-08-2020 7 2 Download
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Development of SNPs (Single Nucleotide Polymorphisms) marker is an important step to initiate the molecular breeding and genetic based studies. Identification and validation of polymorphic SNP will be valuable resource for gene tagging through linkage mapping/QTL mapping. In present study, two ecological ecotypes of Arabidopsis thaliana i.e. Col-0 and Don-0 exhibited variation at phenotypic level (leaf, flower, siliques and root related traits) and genotypic level (SNPs). Out of 500 SNPs, total 365 polymorphic SNPs were validated on Sequenome MassARRAY.
16p nguathienthan2 26-12-2019 47 1 Download
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Environmental stress deleteriously affects every aspect of an ectotherm’s biological function. Frequent exposure of terrestrial insects to temperature variation has thus led to the evolution of protective biochemical and phy-siological mechanisms. However, the physiological mechanisms underlying the positive impact of fluctuating thermal regimes (FTRs) on the fitness and survival of cold-exposed insects have not been studied.
9p galaxyss3 21-03-2013 42 3 Download