All 16 mutations were accurately genotyped, and the standard deviation of the measured Tm was < 0.3 °C.
Thus, the queried mutation was accurately discriminated from other mutations at the same site.
However, a transfected minigene containing the mutation was accurately spliced between exon 4 and 5, suggesting that an amino acid replacement of a tyrosine residue by a cysteine residue at amino acid 141 may affect TMPRSS6 function.
It can therefore be envisaged that once the constitutional defects of the cellular functions caused by ARID1A mutation in OCCCs are accurately catalogued, they can be explored for the development of novel targeted therapies.
In the second example of mutation identification, by using three differently labeled TaqMan probes, 6 mutations could be accurately detected and differentiated.
This study demonstrates that using a GRN ELISA in plasma, pathogenic GRN mutations can be accurately detected in symptomatic and asymptomatic carriers.
Of the eight mutations identified, five were accurately predicted to increase binding affinity, further validating the method as a useful tool to increase protein protein binding affinities.
In the process of extracting mutation-level information, a crucial criterion has been followed: only the mutation that can be accurately located on genome is collected.
The high concordance, specificity and sensitivity reported here demonstrate that EGFR mutation status can be accurately assessed using cfDNA and can be considered appropriate when tumour tissue is unavailable or the sample is exhausted.
Four additional patients carried one missense mutation and one insertion or deletion mutation, and the missense mutations in these four patients were accurately detected.
