The independent distribution of these different PAE mutations suggests that, as would be expected, these mutations arise separately of each other.
In this context, an overlap of 15 genes with rare amino-acid changing mutations suggests that SH-SY5Y includes elements of the genetic architecture of a variety of neuroblastoma tumours.
The existence of a significant number of patients with convincing symptoms though not carrying point mutations suggests that other genes and/or mutational mechanisms, such as gene dosage alteration, could be involved in the etiology of hereditary recurrent fever syndromes.
This finding, together with the likely limited intratumor heterogeneity of BRAF mutations, suggests that the metastatic stage of BRAF-mutated melanomas represents the most appropriate therapeutic setting for BRAF inhibitors.
The new focus on rare mutations suggests that natural selection is highly efficient at removing schizophrenia-causing genes from the population.
The genetic dominance of these mutations suggests that less severe mutations will contribute to phenotypic variation in human neuronally derived traits.
The presence of several haplotypes at relatively low frequencies and the excess of singleton mutations suggests that a demographic process might be affecting the loci.
An analysis of the structural location of the framework mutations suggests that randomization of some framework residues either by error-prone PCR or by design in a future library could increase affinities and the target binding spectrum.
The limited scope of mutations suggests that a presymptomatic screening program for HHT would be feasible in this population.
The fact that the gain of the enzymatic activity to produce 2HG is a shared feature of the IDH1 and IDH2 mutations suggests that this is an important function for these mutants in driving cancer pathogenesis.
Determining whether individual mutations are deleterious, or even adaptive, would require functional analysis; however, the rate of nonsynonymous mutations suggests that continued progression of this epidemic could afford an opportunity for viral adaptation (Fig. 4H), underscoring the need for rapid containment.
