Sentence examples for mutations we assessed from inspiring English sources

For nonsynonymous mutations, we assessed evolutionary conservation, and employed previously described pathogenicity score assessment tools.

To assess the potential severity of human PCSK9 mutations, we assessed the levels of conservation or divergence of non-synonymous mutations listed in Figure 1 by aligning the amino acids among 14 species (Figure 2).

To support computational predictions of the damaging nature of SETD2 mutations, we assessed H3K36 trimethyltransferase activity in histone acidic extractions of patient tissue samples through Western blotting for H3K36me3 levels, an indicator of SETD2 activity [ 11].

Together with protein expression and presence of KIT mutations, we assessed the following variables: gender, age, site of primary tumour, tumour size, performance status (PS), number of previous surgeries, PNN count, haemoglobin levels and lymphopenia before imatinib.

To determine whether this phenotype is present in cystic fibrosis mouse models with the ΔF508 Cftr mutation we assessed the femora of adult FVB/N Cftrtm1Eur and C57BL/6 Cftrtmiceh mice.

To understand the molecular basis of differences in lifespan, locomotion and reproduction caused by mutation, we assessed the effect of stc KG01230 on stc transcript amounts (Table 4).

To confirm the functional impact of SDHA mutation, we assessed SDHA protein expression by western blotting in seven WT GISTs, including three samples from the two patients with SDHA mutation and four without SDHA mutation.

In addition, using the cancer, neutral and other disease (CND) mutation dataset, we assessed the performance of these algorithms when tasked with differentiating between driver mutations and other disease-causing mutations (non-neoplasm).

First, using the cancer and neutral only (CNO) mutation dataset, we assessed the performance of these algorithms when tasked with distinguishing between driver mutations and putatively neutral polymorphisms.

Using the synthetic mutation dataset, we assessed the performance of these algorithms when tasked with discriminating between somatic driver and passenger mutations.

To improve our estimate of the MIRU mutation rate, we assessed copy number in 17 additional strains isolated from cynomolgus macaques that were experimentally infected with the Mtb strain Erdman.