There was no difference in the mean age of subjects with KRAS non-variant and variant alleles (Table 1).
A total of 56 and 57% of subjects with the non-variant and variant KRAS alleles, respectively, were surgically diagnosed with severe (stage IV) endometriosis.
Those symptoms were found in 77%, 96%and69%9% vs. 42%, 42% and 28% of women with the non-variant and variant KRAS genes, respectively (p = 0.0001, p = 0.00001 and p = 0.0001, respectively).
To evaluate differences in growth parameters in vivo, capacity for endometriotic lesion formation as well as histopathological and molecular characteristics of cultured endometrial stromal cells containing non-variant and variant alleles of the KRAS gene, a mouse model of endometriosis was used.
Genomic medicine often relies on well established catalogs of specific variants and variant databases to substantiate conclusions about rare variants.
During the PhAESIS evaluation process, gaps in scientific and clinical evidence for specific gene variants and variant combinations are highlighted for further study.
Further consideration for the choice of the visualization tool is the possibility to handle the data format used in previous analysis methods for reporting variants and variant annotations.
Overall, the majority of CDH1 germline variants are truncating CDH1 mutations, followed by missense variants, and variants affecting splice sites [3, 9].
At the same time, we found substantial allelic heterogeneity within shared loci, characterized both by population-specific rare variants and variants shared among multiple populations that occur at disparate frequencies.
This strategy infers and interprets genetic interaction data in terms of quantitative variant-to-variant and variant-to-phenotype influences, rather than non-directional epistasis.
A more direct analysis that compared the rates of consensus-to-variant and variant-to-consensus substitutions in the donor sites of three intron-rich lineages supported the existence of purifying selection against variants that, however, is too weak to maintain the consensus in most of the introns [ 52].
