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Our analysis shows that the recall achieved by the text mining tool in the recovery of mutations catalogued in the databases is very low.
Our analysis shows that the recall of the mutations catalogued in the databases using a text mining tool is very low, despite the well-established good performance of the tool and even when the full text of the associated article is available for processing.
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We tested this in U2OS human osteosarcoma that are deleted for the cell cycle regulatory gene CDKN2A (Catalogue of somatic mutations in cancer), and human lung cancer A549 cells that carry the K-Ras G12S oncogenic mutation (Catalogue of somatic mutations in cancer).
While it is rare that cataloguing mutations in cancer alone will reveal both mechanisms of disease progression and potential drugable targets, we are left with the greater challenge of understanding how some cancers can relapse after treatment.
(B ) A list of protein-altering RBM47 breast cancer mutations in the Catalogue of Somatic Mutations in Cancer database (COSMIC, http://cancer.sanger.ac.uk/cancergenome/projects/cosmic/ ) as of June 2013.
Next, somatic variants with a minor allele frequency >0.01 in non- Catalogue of Somatic Mutations in Cancer COSMICC) populations in dbSNP were filtered out, as were variants seen > = 1× homozygously or > = 3× heterozygously in reference samples in our in-house database and variants with an allele frequency <25 % if the coverage was <50×.
The second method involved extension of this analysis to the rest of the genome, cataloguing mutations that were maintained in a homozygous state.
Recognition of such spatial patterns has been facilitated largely by a project to catalogue somatic mutations in cancer (Forbes et al., 2011).
According to the Sanger Institute catalogue of somatic mutations in cancer (*COSMIC database, Catalogue of Somatic Mutations In Cancer, http://www.sanger.ac.uk/), the mutational profile of the above cited cell lines is reported: Detroit562 cells harbour a H1047R mutation in the PI3K gene; Kyse30 cells harbour a Q61L mutation in the H-Ras gene.
According to Sanger Institute catalogue of somatic mutations in cancer (*COSMIC database, Catalogue of Somatic Mutations In Cancer, http://www.sanger.ac.uk/) and to previous studies (Ashida et al, 2002; Shinojima et al, 2007), ACHN cells are wild type, whereas the other cell lines are mutant for the VHL gene.
The reason for the low incidence of codon 61 mutations reported in the Catalogue of somatic mutations in cancer database (0.3%) [ 2] and elsewhere (0-1.6%) [ 14- 18] might be due to the use of sub-optimal sequencing methods or, simply, the widespread use of methods limited to codon 12 and 13 analysis.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com