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This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any…
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To further investigate the possibility of regional clustering of spontaneous mutations, we constructed a “rainfall plot” to show the distance between each two neighboring mutations (Figure 3B). Concordance of MiSeq, pyrosequencing and Ion Torrent Personal Genome Machine (IT-PGM) findings. A representative sample in which a KRAS mutation (p.G60V) identified by pyrosequencing was also detected and called by both MiSeq and the IT-PGM… Such rare variation should not be automatically discounted when evaluating variants as pathogenic in disease cohorts. SIFT and ACMG predictions of benign for the Arg80His variant of CRCH139 make it difficult to comment on the pathogenicity…
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Reads were then clustered by 97% identity into operational taxonomic units (OTUs) using UClust v. 3.0.617 (13). OTUs that represented ≥2% of the reads in at least one sample were kept, while those that did not meet the cutoff were discarded…
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