Sentence examples for mutations detailed from inspiring English sources

While pseudogenes have traditionally been considered nonfunctional sequences of genomic DNA that are prone to the accumulation of degenerative mutations, detailed empirical analyses of pseudogene evolution have revealed numerous instances of extremely conserved, transcriptionally active and functional pseudogenes that may contribute to the generation of genetic diversity [ 63- 66].

Our results overall strengthen the overwhelming necessity of cost-effective and practical methods for EGFR mutation detailed characterization [ 7] for NSCLC patient management, even when dealing with small amount of tumoral tissue.

There was no association between the presence of APC and K-ras or BRAF mutations (details not shown).

Finally, 35 loci (38.0% - 35/92) were characterized as nonsynonymous mutations and 57 loci (61.9%; 57/92) as synonymous mutations (details in Table S3).

One hundred and twelve of 232 (48.3%) tumors harbored a total of 165 p53 mutations (22 tumors with two distinct mutations, 6 with three, 2 with four, 2 with five, and 1 with six), including 118 missense mutations, 12 nonsense mutations, 8 frame-shifts, and 27 silent mutations (detail of the mutations in Table S1), although six tumors harbored only silent mutations.

Together, the 12 cell lines contained seven gene mutants that should be detectable by PAC, as they resulted in the skipping of eight exons from among four tumor suppressor genes (mutations are detailed in Table 1).

In order to evaluate potential candidates, we first identify those human genes in our inference list that are known to be involved in cancer mutations, as detailed in Material and methods.

Typer automates the identification of mutants by comparing ratios of the wild type peak to that of all suspected mutants and generates an Onco Mutation report detailing specific mutations and the ratios of wild type and mutation peaks.

Based on [14], our GP framework uses the genetic operators of reproduction, crossover, and mutation as detailed in Sect.

To identify proteins functionally connected to the lagging strand DnaE polymerase, a search was conducted for extragenic suppressors of four dnaE thermosensitive (Ts) mutations (named dnaE2.2, dnaE2.4, dnaE2.6 and dnaE2.10, see Table 1 for mutation details).

Sequencing of all 23 exons of the PTCH1 gene indeed identified frameshift mutations in 4 tumors of cluster B, but not in any of the remaining tumors (P = 0.009) (Figure 1A and Table S1 for mutation details).