Mutation and natural elite line identification has been the dominant way of breeding new cultivars [ 6].
Genome-wide mutation identification initiatives have been launched, including the Cancer Genome Association and the International Cancer Genome Consortium.
All of the available studies respectively focus on seizure semiology, prevalence, mode of inheritance and gene mutation identification; and have been conducted mainly in Denmark [ 23, 37, 41], the United States [ 35, 36, 38– 40] and Finland [ 34].
In the last years, there have been important developments about their biologic mechanism, their surgical and drug treatment, and their diagnosis and genetic mutations; indeed, the recent IDH gene mutation identification in gliomas has been an important contribution to the knowledge improvement of biological mechanism and prognosis of these tumors.
In one case, gaps in the genome and local misassembly would have made mutation identification extremely difficult without exon capture/BSA.
Over 40 of approximately 300 X-linked diseases map to this region, and systematic mapping, transcript identification, and mutation analysis has led to the identification of causative genes for 26 of these diseases, leaving another 17 diseases mapped to Xq28, where the causative gene is still unknown.
Technological advancements have provided methods to speed up the process of mutation identification.
V(D J assignment and mutation identification was performed using an implementation of SoDA42.
FH participated in mutation identification management.
Following the candidate gene approach identification of SQSTM1 mutation, it has been further reported in ALS and in FTLD (Chen et al., 2014; Hirano et al., 2013; Le Ber et al., 2013; Rubino et al., 2012; Shimizu et al., 2013; Teyssou et al., 2013).
