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It is purely on the basis of statistics that the sites of variation on the DNA are believed to be associated with disease.
One of the same sites of variation has been found by a second team, led by David Hunter of the Harvard School of Public Health.
DeCode Genetics, a gene-finding company based in Iceland, has also identified two new sites of variation, one of which is the same as one found in Dr. Easton's study.
All three scientists expressed confidence that their whole genome association studies had avoided the pitfalls of the past and were pointing to sites of variation that either cause disease or lie close to those that do so.
In a long-delayed harvest from the human genome project, researchers say they have found six new sites of variation in the genome that increase the risk of breast cancer.
The sites of variation discovered by DeCode and the two other groups do not lie in genes and for the most part have no known biological function, though some are conjectured to control the activity of nearby genes.
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We hypothesized that the NpolyQ may be a site of variation across N. crassa populations thereby providing a mechanistic link between the environment and the circadian clock.
Areas under HLA-specific immune pressure that can accommodate more than one site of variation may not be detected by our initial single amino acid approach.
We classified BRCA1/ BRCA2 missense variants into three categories (high conservation, moderate conservation, and low conservation) depending on the number of the species that had a different amino acid from that of the human at the site of variation.
In our database format, annotated SAPs and PTMs are inserted right after the site of variation, see Figures 1 and 4. From this point on, we will call sites containing annotated SAPs/PTMs variable sites and sites without annotated SAPs/PTMs unvaried sites.
Only genes (N = 17) targeted by CNA in ER+ ERBB2 amplified BCs were sites of genomic variation (12 by copy number variation [CNV], 4 by insertion or deletion [InDel] and 1 by inversion), respectively (Table 1).
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