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Two groups have combined padlock probes and massively parallel sequencing to characterize cytosine methylation in targeted regions of the human genome.
Only a subset of single-nucleotide polymorphisms (SNPs) can be genotyped in genome-wide association studies. Imputation methods can infer the alleles of 'hidden' variants and use those inferences to test the hidden variants for association.
Only a subset of genetic variants can be examined in genome-wide surveys for genetic risk factors. How can a fixed set of markers account for the entire genome by acting as proxies for neighboring associations?
DNA synthesis by single polymerase molecules has been visualized at the speed of catalysis, heralding a new sequencing technology of unparalleled throughput.