After collecting the set of coding variants in each individual, the authors asked a simple question: could we have pinpointed the disease gene from mutation data? (massgenomics.org)
This type of analysis, integrated with the somatic mutation data, helps distinguish driver genes that are targeted for alteration in tumors, e.g. amplification of ERBB2 and deletion with LOH of TP53. (massgenomics.org)
For the Evolutionary Biology study, labeled a «synthesis paper» by the journal, Elias and co-author Jacob P. Thyssen, MD, a professor at the University of Copenhagen, mapped the mutation data and measured the correlations with blood levels of vitamin D. Labs throughout the world identified the mutations. (sciencedaily.com)