Mutations were considered actionable if identified as ESMO Scale of Clinical Actionability for molecular Targets (ESCAT) tier I or tier II in the OncoKB (https://www.oncokb.org, v.3.12) or Clinical Interpretation of Variants in Cancer (CiVIC, https://civicdb.org/, v.2.0.0) databases. Det...
HNPCC is caused by loss-of-function germline mutations in a set of genes involved in the repair of DNA base pair mismatches that occur during DNA replication (also known as the mutation mismatch repair system). The genetic basis of HNPCC (Lynch syndrome) is described in greater detail in...
38, but distinguishing the impact of large-scale rearrangements on fitness from other types of mutation in naturally evolved strains remains challenging. The SparLox83R strain can be used to introduce large-scale genomic rearrangements, allowing the investigation of the role of such rearrangements in...
Boichard A,Croux L,Al Ghuzlan A,et al.Somatic RAS mutations occur in a large proportion of sporadic RET-negative medullary thyroid carcinomas and extend to a previously unidentified exon[J].J Clin Endocrinol Metab,2012,97 (10):E2031-E2035....
It is notable that mutations in MraY—which are generally last to occur, and never occur alone—might have a compensatory effect. Altered PBPs, while conferring resistance, might be less active transpeptidases than their wild-type counterparts [54]. For example, the amidotransferase enzyme encoded...
The central dogma describes the way information flows in one direction from DNA to RNA to proteins. Disruptions in the information flow or regulations of the steps may result in gradations of gene expression. DNA mutations may occur during DNA replication resulting in changes to the codons and...
Evolutionary changes, which have shaped the mammalian genomes, include both small-scale (point mutations, microsatellite slippage, insertions/deletions) as well as large-scale events (transpositions, genomic rearrangements and segmental duplications). Knowledge of mutation rates is critical for building ...
because correcting batch effects requires fitting a model that captures the batch effects while preserving the biological signal, overfitting can occur and result in a loss of statistical power and generalization to new data. Hence, it is important to develop methods that can generalize well across ...
model is proposed for the phenotypic discovery of diseases that often co-occur in patients (referred to as disease comorbidity), and are expected to be governed by the same genetic mutations12. Our proposed approach is further developed to allow inclusion of domain knowledge in terms of ...
Evolutionary changes, which have shaped the mammalian genomes, include both small-scale (point mutations, microsatellite slippage, insertions/deletions) as well as large-scale events (transpositions, genomic rearrangements and segmental duplications). Knowledge of mutation rates is critical for building ...