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The CSC model posits that the heterogeneity observed between tumour cells is the result of differences in the stem cells from which they originated. Stem cell variability is often caused by epigenetic changes, but can also result from clonal evolution of the CSC population where advantageous genetic mutations can accumulate in CSCs and their ...
In genetic counselling, parents are often told that after having a first child with a condition caused by a de novo mutation the risk of a having a second child with the same mutation is 1 – 2%. However, this does not reflect the variation in risk among different families due to genetic mosaicism. A personalised risk assessment can now ...
There is a critical difference between deletion and CN-LOH, as the latter mechanism cannot be detected by comparative genomic hybridization (CGH)-based gene copy number counting, and requires allelic genotyping. Either way, LOH leaves only non-functioning alleles of the TSG, and the individual may go on to develop cancer.
Human genetic variation is the genetic differences in and ... and their length varies between individuals. Each variant acts as an ... prostate cancer and renal ...
The term "variant' is favored in clinical practice over "mutation" because it can be used to describe an allele more precisely (i.e. without inherently connoting pathogenicity). When the variant has no impact on health, it is called a "benign variant". When it is associated with a disease, it is called a "pathogenic variant".
According to the CD-CV hypothesis, some of those variants lead to susceptibility to complex polygenic diseases. Each variant at each gene influencing a complex disease will have a small additive or multiplicative effect on the disease phenotype. These diseases, or traits, are evolutionarily neutral in part because so many genes influence the ...
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene that also expresses an associated trait . In medical genetics , the penetrance of a disease -causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all individuals with such mutation. [ 1 ]
Genomic structural variation is the variation in structure of an organism's chromosome, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than SNPs and smaller than chromosome abnormality (though the ...