These techniques were applied to extract gene– mutation relations from biomedical abstracts with the goal of supporting production scale capture of gene mutation disease findings as an open source resource for personalized medicine.
If we wished to extend this approach to disease gene– mutation curation, we would need to adopt a similar approach, to break the problem down into smaller subcomponents that could be separately judged; our early experiments on curation of the three-way disease gene– mutation relations suggested that this task would be cognitively too complex, with too many ways for a relation to be incorrect.
Note that the 96% of accuracy in our results is also consistent with that of (36) where the turkers were 90% accurate on gene-mutation relation judgment.
Golden Standard Positive (GSP) dataset contains the disease-mutation relations that were manually collected from published sequencing results and OMIM Allelic Variants.
Database URL: http://www.mitre.org/publications/technical-papers/hybrid-curation-of-gene-mutation-relations-combining-automated The fields of translational medicine and personalized medicine rely on coupling information about an individual's genotype (genetic make-up and genetic variations) with their phenotype (physical characteristics and state of health/disease).
Since previous reports have shown that PIK3CA mutations have differing effects on PIK3CA signaling and AKT phosphorylation, we investigated the role of different PIK3CA mutations in relation to ARID1A mutation or loss by IHC.
The dystrophin-deficiency phenotype varies from a severe Duchenne-type to the milder allelic form known as Becker muscular dystrophy (BMD), determined in part by the location of the mutation in relation to the actin and dystroglycan binding domains and, in particular, by the mutation's effect on the reading frame [7].
It will be of interest to examine STAG2 mutation in relation to both gender and the status of androgen receptor and its targets.
Differences between specific patient groups regarding clinicopathological characteristics such as lymph node metastasis, ERα, progesterone receptor (PR), and P53 mutation in relation to DYX1C1 protein expression (from IHC analyses) were determined using Fisher's exact test.
We studied the contralateral breast cancer risk in 164 patients from 83 families with a proven BRCA1 mutation in relation to the age at diagnosis of the first primary breast cancer.
22 The independency of EGFR gene mutation in relation to Axl expression also was revealed, which is surprising considering the possible cross-talk or alternative activation between Axl and EGFR.
