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SNPs captured by all commonly used exome enrichment kits were identified, and filtered for possible confounding properties.
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In addition, polyclonal BRAF mutations were identified in one patient and concomitant mutations in BRAF and KIT were identified in another patient.
The loci used in the AHE kit were identified using broader and deeper taxonomic sampling than what was used for the original UCE design, increasing capture efficiency for a wider taxonomic range relative to those markers.
Four samples (panel member #9, 10, 13 and 14) that were HIV-1 RNA positive, but scored as negative by the Organon Teknika HIV-1 EIA kit, were identified as seropositive for HIV-1 by all three in-house TRF assays.
A 21 base-pair duplication in exon 11 of KIT was identified in the splenic metastasis.
A commercially available depletion kit was identified which depletes albumin and (to a lower extent) immunoglobulins from dog CSF.
An L576P mutation in exon 11 of KIT was identified in the clitorectomy specimen and imatinib was commenced at a 400 mg daily dose.
Moreover, c-KIT was identified by our pathway mining procedure with p-value < 0.05 (listed in Table 3) by t-test calculated from the ovarian expression data, indicating this approach identify genes involved in chemoresistant mechanisms.
In GIST tumors, where 31 KIT mutations were identified in 25 samples; both primary (imatinib-responsive) and secondary (imatinib-resistant) KIT mutations were observed, in keeping with prior mutation profiling studies [7].
Out of the 66 samples that yielded informative results with the DxS-KRAS-kit, mutations were identified in 29 cases, in full concordance with the corresponding KRAS-TMGB results (100%).
In another recent study, KIT mutations were identified in 23% of acral melanomas, 15.6% of mucosal melanomas, 1.7% of cutaneous melanomas, and none in choroidal melanomas[ 13].
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