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A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). [1] Mutations in these cells are the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote. [2]
26 cze 2021 · Here, we review recent evidence of how germline variation in Ig genes impacts the Ig repertoire and its subsequent effects on the adaptive immune response in vaccination, infection, and...
21 wrz 2021 · Definition. Differences between the germline DNA sequences of individuals. Use in clinical context. Germline variation results from individuals inheriting different combinations of germline variants from their parents. These variants will be present in all cells and can be passed on to the individual’s children.
As the term indicates, germline mutation are inherited from parents to offspring and such variation can be detected in the germ cells, whereas sporadic mutation is acquired during the individual lifespan and is not passed to their kin.
25 sie 2017 · Here we introduce a new framework, differential mutation analysis, that uncovers cancer genes by comparing the mutational profiles of genes across cancer genomes with their natural germline variation profiles across healthy individuals.
1 sty 2020 · If this variability has arisen before us, it is called germline, inherited, or seemingly de novo. If it has it arisen after us, it is called somatic mosaicism or true de novo.
1 dzień temu · This comprehensive review provides insights and suggested strategies for the analysis of germline variants using second- and third-generation sequencing technologies (SGS and TGS). It addresses the critical stages of data processing, starting from alignment and preprocessing to quality control, variant calling, and the removal of artifacts. The document emphasized the importance of meticulous ...
