Building enhancer–gene maps is essential but challenging with current experimental methods in primary human tissues. Here we developed a nonparametric statistical method, SCENT (single-cell enhancer target gene mapping), that models association between enhancer chromatin accessibility and gene expression in...
Explain how mutations are the ultimate source of new alleles. What is the difference between the point mutation and the frameshift mutations? Describe the possible effects of each of these mutations on a gene's protein. Which of these mutations in a gene would likely ha...
The allelic specificity of the HLA peptide binding groove in the pathogenesis of T cell mediated drug hypersensitivity is exemplified by the well characterized abacavir hypersensitivity syndrome which occurs bothin vivoandin vitroonly in association withHLA-B*57:01, and not with related B17 serotype ...
is impractical and time-consuming. Alternatively, automated approaches such as text mining can process the entirety of PubMed and retrieve the needed information within a few minutes to hours. Unlike EHRs, which have numerous limitations on access, PubMed is freely accessible without any restrictions...
This process is controlled by a wide array of motifs, such as the consensus 3′ and 5′ splice sites (3′SS and 5′SS, respectively), the polypyrimidine tract, the branchpoint, and other splicing regulatory elements [14], which represent targets for potential spliceogenic variants. ...