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Exemplifying this, roughly 200 variants that were previously believed to be disease-causing mutations were now revealed to be mostly harmless polymorphisms by use of the database [26, 34].
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Targeted therapies, which are designed to disarm these mutations, are now at the forefront of care.
Interestingly, de novo mutations are now known to be rather pervasive in the brain [75, 76].
Oncogenic activating mutations are now known to occur in a number of epigenetic modifiers (i.e. IDH1/2, EZH2, DNMT3A), pinpointing epigenetic pathways that are involved in tumorigenesis.
Testing for KRAS mutations is now being recommended as a tailored therapeutic strategy prior to anti-EGFR treatment; however, the low sensitivity of direct sequencing frequently leads to failure of detection of KRAS mutations in clinical samples.
Cx mutations are now widely accepted as one of the most common human mutations causing severe sensorineural deafness.
TS mutations are now being used more and more extensively to probe gene function in the nematode Caenorhabditis elegans.
Several different mutations are now described [10] in the JAK2 exon 12 clustered in a short region of about 35 bases [7], easily studied in only one round of PCR.
Two other mutations are now also recognised as primary LHON mtDNA mutations m.3460G>A and m.14484T>C.
Consequently, these mutations are now incorporated into the diagnostic criteria of the Ph-negative MPNs [ 8].
The identification of point mutations is now straightforward owing to advances in sequencing technology and in mutation detection.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com