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2. Finding mutations or mutation keywords.
We have not so far found two mutations (or mutation and deletion) in ASXL1 in the same sample.
These disorders commonly result from constitutive activation of JAK2 signalling through mutation of JAK2, frequently via the JAK2 V617F mutation (especially in polycythaemia vera), but also from JAK2 exon 12 mutations, or mutation of the TPO receptor (MPL), or mutations of LNK, a negative regulator of JAK2 [ 79– 81].
2. Mutations or mutation series are not connected with conjunctions such as and and or; in this case, the impact is grounded to the nearest detected mutation or mutations (in case the nearest mutations are connected by conjunctions, the impact is grounded to each mutation).
Although the workflow of NGS data alignment and comparison with reference genomes to identify mutations (or ?mutation calling?) has improved, NGS is highly dependent on sophisticated computational biology algorithms to identify a region of cancer DNA sequence as wild-type, benign SNP, or a somatic mutation [ 34].
How did the mutation or mutations spread globally?
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The relative mutation rates of the different DNA contexts are usually measured directly using mutations that are presumably non-functional, such as synonymous mutations or mutations observed on the least frequently mutated genes (TCGA 2008).
These are mostly missense mutations or mutations in the promoter region that results in lower efficiency or lower levels of the pRb protein.
The mutations in the His operon strains prevents histidine biosynthesis, thus random mutations or mutations due to an external agent must occur for colony growth on histidine-deficient medium.
It will be particularly interesting to analyze whether mutations such as the Abruptex mutations or mutations underlying the catastrophic neurodegenerative disease CADASIL in humans, which also correlate with extracellular point mutations [18], affect the oligomeric state and/or the conformation of the NECD.
Two genes exhibited recurrent nonsynonymous mutations or mutations in the untranslated region (Table S4).
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