Animals ; Diethylnitrosamine/toxicity* ; Liver ; Liver Neoplasms/chemically induced* ; Rats

Objective    To analyze the value of structured electronic medical records for pulmonary nodules in increasing the ability of outpatient service and hospital management by resident physicians. Methods    We included 40 trainees [94 males and 26 females aged 22-31 (26.45±2.81) years] who were trained in the standardized training base for surgical residents in our hospital from January 2018 to January 2021. The trainees were randomly divided into two groups including a structured group using the structured electronic medical record for pulmonary nodule and an unstructured group using unstructured electronic medical record designed by our department. The time of completing hospitalization records and first-time course records, the quality of course records, the accuracy of issuing admission orders, the quality of teaching rounds, and patient’s satisfaction between the two groups were analyzed and compared. Results    (1) The average time in the structured group to complete inpatient medical records was significantly shorter than that of the unstructured group (53.61±8.12 min vs. 84.25±16.09 min, P<0.010); the average time in the structured group to complete the first-time course record was shorter than that of the unstructured group (13.20±5.43 min vs. 27.51±8.62 min, P<0.010), and there was a significant statistical difference between the two groups. (2) The overall teaching round quality score of the students in the structured group was significantly higher than that in the unstructured group (84.21±15.61 vs. 70.91±12.28, P<0.010). (3) The score of the medical record writing quality of the structured group was significantly higher than that of the unstructured group (80.25±9.22 vs. 74.22±5.40, P<0.010). Conclusion    The structured electronic medical record specific for pulmonary nodules can effectively improve the training efficiency in the standardized training of surgical residents, improve the clinical ability to deal with pulmonary nodules, improve the integrity and accuracy of key clinical data collected by students, and improve doctor-patient relationship.

Next-generation sequencing has revolutionized family-based association tests for rare variants. As the lower power of genome wide association study for detecting casual rare variants, methods aggregating effects of multiple variants have been proposed, such as burden tests and variance component tests. This paper summarizes the methods of rare variants association test that can be applied for family data, introduces their principles, characteristics and applicable conditions and discusses the shortcomings and the improvement of the present methods.
Computer Simulation ; Family Relations ; Genetic Association Studies ; Genetic Variation ; Genome-Wide Association Study/methods* ; Humans

Non-syndromic oral cleft (NSOC), a common birth defect, remains to be a critical public health problem in China. In the context of adjustment of childbearing policy for two times in China and the increase of pregnancy at older childbearing age, NSOC risk prediction will provide evidence for high-risk population identification and prenatal counseling. Genome-wide association study and second generation sequencing have identified multiple loci associated with NSOC, facilitating the development of genetic risk prediction of NSOC. Despite the marked progress, risk prediction models of NSOC still faces multiple challenges. This paper summarizes the recent progress in research of NSOC risk prediction models based on the results of extensive literature retrieval to provide some insights for the model development regarding research design, variable selection, model-build strategy and evaluation methods.
Humans ; Cleft Palate/genetics* ; Cleft Lip/genetics* ; Genome-Wide Association Study ; Genetic Predisposition to Disease ; Risk Factors ; Polymorphism, Single Nucleotide

OBJECTIVE: To explore the association between de novo mutations (DNM) and non-syndromic cleft lip with or without palate (NSCL/P) using case-parent trio design. METHODS: Whole-exome sequencing was conducted for twenty-two NSCL/P trios and Genome Analysis ToolKit (GATK) was used to identify DNM by comparing the alleles of the cases and their parents. Information of predictable functions was annotated to the locus with SnpEff. Enrichment analysis for DNM was conducted to test the difference between the actual number and the expected number of DNM, and to explore whether there were genes with more DNM than expected. NSCL/P-related genes indicated by previous studies with solid evidence were selected by literature reviewing. Protein-protein interactions analysis was conducted among the genes with protein-altering DNM and NSCL/P-related genes. R package "denovolyzeR" was used for the enrichment analysis (Bonferroni correction: P=0.05/n, n is the number of genes in the whole genome range). Protein-protein interactions among genes with DNM and genes with solid evidence on the risk factors of NSCL/P were predicted depending on the information provided by STRING database. RESULTS: A total of 339 908 SNPs were qualified for the subsequent analysis after quality control. The number of high confident DNM identified by GATK was 345. Among those DNM, forty-four DNM were missense mutations, one DNM was nonsense mutation, two DNM were splicing site mutations, twenty DNM were synonymous mutations and others were located in intron or intergenic regions. The results of enrichment analysis showed that the number of protein-altering DNM on the exome regions was larger than expected (P < 0.05), and five genes (KRTCAP2, HMCN2, ANKRD36C, ADGRL2 and DIPK2A) had more DNM than expected (P < 0.05/(2×19 618)). Protein-protein interaction analysis was conducted among forty-six genes with protein-altering DNM and thirteen genes associated with NSCL/P selected by literature reviewing. Six pairs of interactions occurred between the genes with DNM and known NSCL/P-related genes. The score measuring the confidence level of the predicted interaction between RGPD4 and SUMO1 was 0.868, which was higher than the scores for other pairs of genes. CONCLUSION Our study provided novel insights into the development of NSCL/P and demonstrated that functional analyses of genes carrying DNM were warranted to understand the genetic architecture of complex diseases.
Asians ; Case-Control Studies ; Cleft Lip/genetics* ; Cleft Palate/genetics* ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Mutation ; Parents ; Polymorphism, Single Nucleotide ; Whole Exome Sequencing