His research interests are largely focused upon elucidating the mechanisms of mutagenesis underlying human genetic disease, but include genotype — phenotype relationships in various inherited conditions, as well as human evolutionary and population genetics. (genomicmedicinealliance.org)
Unexplained cases of spontaneous reversions also appear in human genetic diseases, although the natural frequency of such events is unclear. (scientificamerican.com)
About half of the 32,000 mutations associated with human genetic diseases are this type of C - G to T - A change, says Liu, a Howard Hughes Medical Institute investigator at Harvard University. (sciencenews.org)