Since the majority of the cases in this series (88%) carry telomerase mutations, similar to the documented literature [ 14], we will use the terminology telomerase mutation carriers to refer to this cohort hereafter.
The term mutation is often used to refer to a genome variation that is related to certain hereditary disease or cancer, while polymorphism indicates a modification that can be neither harmful nor beneficial (65).
By contrast, we use the term 'tool' to refer to mutations that do not model a disease, but still provide biological insight (Sive, 2011).
In a temporal expression profile, B UIm A Otxm -BpCAT Otxm -BpCATtation; Otxm: Otx mUImtion)(refers to FigUIe S1(B)) two different state transition occurs fromutationue pair Otxmresent state and input cOtxition at 25–40 and 50–61 pfh respectively.
The mutation entity type captures mentions of mutations which specify changes in the protein or DNA sequence as well as mutation terms which refer to general properties of a mutation (e.g. somatic mutation) or terms specifying a mutated gene (e.g. APC+).
Variations in a gene that arise due to mutations are referred to as alleles.
The nomenclature of human KIAA0586 mutations refers to reference sequence NM_001244189.1 (corresponding protein: NP_001231118.1).
Variants are automatically classified by the pipeline to help the user in detecting causative mutations (also refer to Additional file 4).
Null mutations refer to mutations that convert an amino acid codon into a premature stop codon, or that alter a conserved splice junction and result in premature truncation of the protein product of the gene.
Notably, the phrase "accumulation of new mutations" can refer to different levels of genetic variation: it can be related to DNA replication errors left unrepaired in meiosis (observed in pedigree studies), however, in population studies it refers to the level of polymorphism and in interspecies comparisons to the number of fixed differences.
