Objective: To develop novel strategies to identify relevant molecular signatures for complex human diseases based on data of identical-by-decent profiles and genomic context.Methods: In the proposed strategies, we define four relevancy criteria for mapping SNP-phenotype relationships-point-wise IBD mean difference, averaged IBD difference for window, Z curve and averaged slope for window.Results: Application of these criteria and permutation test to 100 simulated replicates for two hypothetical American populations to extract the relevant SNPs for alcoholism based on sib-pair IBD profiles of pedigrees demonstrates that the proposed strategies have successfully identified most of the simulated true loci.Conclusion: The data mining practice implies that IBD statistic and genomic context could be used as the informatics for locating the underlying genes for complex human diseases. Compared with the classical Haseman-Elston sib-pair regression method, the proposed strategies are more efficient for large-scale genomic mining.

The pathway information in KEGG and the chromosome location in LocusLink, and three different similarity measurements are used to analyze the similarity of the mRNA expression level of genes which have strong correlative function with each other in a pathway and have near location with each other in the chromosome. The results are summarized as follows: (1) Quite a number of genes show significant correlation with other correlative genes at mRNA expression level. (2) The mRNA expression level is consistent with the intensity of functional relationships between genes. So it can be concluded that the function of genes involved in any pathway is correlated with the mRNA expression level of genes.
Adenocarcinoma ; genetics ; Chromosome Mapping ; methods ; Colonic Neoplasms ; genetics ; Databases, Genetic ; Gene Expression Profiling ; methods ; Gene Expression Regulation, Neoplastic ; Humans ; Oligonucleotide Array Sequence Analysis ; methods ; RNA, Messenger ; metabolism

Objective To investigate the safety and efficacy of rescue stenting after failure of endovascular treatment for acute cerebral large artery occlusive infarction, and compare the differences of safety and efficacy between bridged treatment and direct endovascular treatment in acute cerebral large artery occlusive infarction. Methods The clinical data of 60 patients with acute cerebral large artery occlusive infarction who underwent rescue stenting after failure of endovascular treatment in our hospital form March 2015 to March 2018 were retrospectively analyzed; 26 patients underwent bridged treatment+rescue stenting (bridged treatment group), while 34 patients underwent direct endovascular treatment+rescue stenting (direct treatment group). The recanalization degree immediately after the treatment was evaluated by Modified Thrombolysis in Cerebral Infarction (mTICI) scale. National Institutes of Health Stroke Scale (NIHSS) was performed 24 h and 5-7 d after the treatment, and modified Rankin Scale (mRS) was applied 90 d after treatment to evaluate the neurological functions. In addition, incidences of intracranial hemorrhage and symptomatic intracranial hemorrhage (SICH) and postoperative mortality within 90 d of treatment were calculated. Results (1) Among the 60 patients, 55 patients (91.7％) had revascularization (mTICI 2b-3) immediately after the rescue stenting. NIHSS scores before rescue stenting and NIHSS scores 24 h after rescue stenting (17.50 [15.00, 24.00) vs. 12.00 [8.25, 19.00]) showed statistically significant differences (P<0.05). Twenty-nine patients (48.3％) obtained satisfactory prognosis 90 d after rescue stenting (mRS scores≤2), 9 patients (15.0％) suffered SICH after rescue stenting, and 9 patients died (15.0％). (2) The immediate revascularization rate (92.3％ vs. 91.2％), NIHSS scores 24 h and 5-7 d after surgery (12.00 [7.75, 18.00] vs. 14.50 [10.00, 22.00] and 8.00 [3.00, 12.50] vs. 10.50 [6.75, 16.75]), good prognosis rate 90 d after treatment (57.7％ vs. 41.2％), postoperative SICH incidence (19.2％ vs. 11.8％), and mortality (11.5％ vs. 17.7％) in the bridged treatment group and direct treatment group were not significantly different (P>0.05). Conclusion Rescue stenting is safe and effective for patients with acute cerebral large artery occlusive infarction, no matter it is by bridged treatment or direct intravascular treatment; and the two methods show no significant differences in safety and efficacy