Optical mapping is a powerful genetic identification tool that so far has been limited to lower organisms. Now a USC-led team of computational biologists has made the method practical for human ...
A long-range optical DNA mapping technique has proved its worth in a clinical setting, successfully identifying large structural variants in DMD, the gene responsible for Duchenne muscular dystrophy.
The triplication of a region of chromosome 21 around D21S55 in 21q22.2–22.3 has been involved in the main features of Down syndrome including mental retardation (Down syndrome chromosome region: DCR).
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