The synonymous mutation relationships are shown in Figure 3B.
In addition to the work on gene/ protein– mutation relationships mentioned above, protein– protein interactions and other specific events such as gene expression and transcription have been studied in community challenges (40, 41).
Of interest, KRAS CNGs showed the same clinico-pathological associations as those previously described for KRAS mutations – relationship to smoking status, non-Asian ethnicity and mutual exclusivity with EGFR mutations [29].
I tested the role of network size (six levels), network topology (two levels), and the location of the mutations (functional relationship versus topological mutation) on epistasis using 1000 randomly-generated networks for each treatment, for a total of 24000 runs.
For higher frequencies in the double dhps mutation, the relationship between the dhfr triple frequency and protective efficacy is less apparent (Figure 4 c e).
This study was designed to characterize the frequency of LKB1 mutations, their relationship to EGFR and KRAS mutations, and their associated clinicopathologic characteristics in Chinese patients.
To provide a systemic gateway for mutation-disease relationship exploration, we implemented several search features on the website, including mutation description syntaxes (e.g. 'p.Gly1349Asp'), reported gene name (e.g. 'CFTR'), chromosomal region (e.g. 'chr1 100000-200000'), disease (string search or multiple option search), or OMIM disease IDs.
We tested two sets of predicted nonsense mutations in relationship to their distribution in different ROH lengths.
The mutation-disease relationship records in the current release were collected through PubMed searches using the terms ' (exome OR whole OR deep OR high-throughput OR (next AND generation) OR (massively AND parallel)) AND sequencing AND mutation'.
While a spectrum of mutations in established oncogenes and tumor suppressors have been identified in BTC the real frequency of such mutations and the relationship of mutations with each other has been hard to define.
