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However, the matched normal data from the same individual are often unavailable in clinical situation.
Clinical importance of the method is providing pathway interpretation of single cancer, even though its matched normal data are unavailable.
Members can specify one or more values for a variety of search parameters spanning participant, tumor specimen and matched normal data elements.
Therefore, we suggest a new approach for the personalized identification of altered pathways, making special use of accumulated normal data in cases when a patient's matched normal data are unavailable.
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For samples that did not have matching normal data (n = 15), a pooled normal baseline from all the other normal samples was used.
Analysis of pleural mesothelioma compared to matched normal tissue data revealed that expression of these genes is also increased in human tumors compared to normal tissue, indicating that activation of these developmental pathways is not species specific.
Except for the FGFR2 and PIK3CA mutations that affected human tumour cell lines, the remaining 8 mutations were found in samples derived from primary tumours and were somatic in origin as assessed by the sequencing of the matched normal DNA (data not shown).
In a large study (98 cases), we confirmed by real-time quantitative PCR (RT-QPCR) that its expression level remains relatively constant between HNSCC tumours and matched normal tissues (data not shown).
An important clinical aspect of our methods is that it enables the interpretation of a cancer case in a single patient, even if matched normal tissue data from the same individual are unavailable.
No matched normal exome sequencing data are required to run this pipeline.
We also examined the miR-205 expression in 9 pairs of matched colon cancer specimens, but found no significant difference in miR-205 expression level between tumors and the matched normal colon tissues (data not shown), suggesting that downregulation of miR-205 may be specific to breast cancer.
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