Objectives: Single-nucleotide polymorphism (SNP) arrays have been shown to identify cytogenetic abnormalities in myeloid neoplasms that may be missed by metaphase cytogenetics alone at initial diagnosis. This study examines the utility of serial SNP arrays in follow-up testing of myeloid neoplasms....
It is especially counter-intuitive when interpreting a positive result in a test on a low-incidence population after having dealt with positive results drawn from a high-incidence population.[2] If the false positive rate of the test is higher than the proportion of the new population with...
ARMS PCR is mostly used in low throughput settings, because you can only detect one SNP at a time in one sample aliquot, and because running a gel for every PCR reaction is time consuming. It is, however, the method of choice for the diagnosis of the blood disorders thalassemia – which...
However, intensive worldwide research indicates that its malignant transformation is the product of a multi-step process where there is an array of mutations which account for three or more classes of genes, inclusive of proto-oncogenes, tumor suppressor genes, and mutator genes. This causal ...
As the field has moved toward treating AD as early as possible, the sensitive cognitive testing has increased in im- portance. There is great interest in studying treatments for "Mild Cognitive Impairment" (MCI), a heterogeneous syndrome that in- cludes a high proportion of individuals with ...
no mutation or selection and can provide robust estimates of localNeif migration rates between demes are low (Waples and Do2008,2010). The likelihood that SNP loci are physically linked, potentially biasingNeestimates based on LD, is low in our data set because we only kept one SNP locus per...
Thus, GWAS have proven to have a limited scope to identify the "causal" gene in multi-gene loci because neither the variant with the strongest association (lead SNP) nor the nearest gene are necessarily causal. For that reason, it is becoming common practice to avoid naming a genomic locus...
Cases with both somatic exome and SNP array data were used (n = 266). There were 13,148 coding somatic mutations, of which 29.7 % were located within a region of LOH in the sample where it was observed. The average overlap of all the genes assayed with regions of LOH per sample...
DNA methylation heritability refers to the proportion of locus-specific DNA methylation variance in the population that is due to genetic variation. Twin studies estimate the narrow sense heritability (h2), which is the proportion of the total locus-specific DNA methylation variance in the population...
In terms of genetic epidemiology, we are more certain that OCA is associated with blue eyes than any other gene and trait (−log10(p) = 43,740) Hysi personal communication. Fig. 11: A Manhattan plot for GWAS of eye colour. Each SNP in the study is shown in relation to its ...