High-throughput next-generation sequencing (NGS) technology produces a tremendous amount of raw sequence data. The challenges for researchers are to process the raw data, to map the sequences to genome, to discover variants that are different from the reference genome, and to prioritize/rank the variants for the question of interest. The recent development of many computational algorithms and programs has vastly improved the ability to translate sequence data into valuable information for disease gene identification. However, the NGS data analysis is complex and could be overwhelming for researchers who are not familiar with the process. Here, we outline the analysis pipeline and describe some of the most commonly used principles and tools for analyzing NGS data for disease gene identification.
Genome ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Humans ; Sequence Alignment ; Statistics as Topic

The application of structured education in patients with type 2 diabetes mellitus showed significant effect. This paper introduced relevant content of structured education, the application status quo of structured education in patients with type 2 diabetes mellitus at home and abroad, aiming to provide reference for exploring health education models of patients with diabetes mellitus and reduce patients' complications, thus improving their quality of life.

Objective:To compare the clinical efficacy between reservation and sacrifice of remnants in the footprint area in arthroscopic repair of rotator cuff tear.Methods:A retrospective study was conducted to analyze the clinical data of 32 patients with rotator cuff tear plus remnants in the footprint area (2 cm < tear size <5 cm) who had been admitted to Department of Sports Medicine, The People's Hospital of Northern Jiangsu from May 2020 to July 2021. The patients were divided into 2 groups according to reservation or sacrifice of remnants in the footprint area in arthroscopic repair of rotator cuff tear. In the remnant-reservation group (16 cases): 5 males and 11 females with an age of (61.8±9.9) years, 9 left and 7 right shoulders affected, and (3.7±1.1) cm in size of rotator cuff tear; in the remnant-sacrifice group (16 cases): 4 males and 12 females with an age of (61.3±8.8) years, 8 left and 8 right shoulders affected, and (3.9±0.9) cm in size of rotator cuff tear. The 2 groups were compared in terms of visual analogue scale (VAS), American Shoulder and Elbow Surgeons (ASES) score, Constant-Murley shoulder function score (Constant score), and range of motion of the affected shoulder before surgery, 3 months after surgery and at the last follow-up. The ratio of bilateral abductor muscle strengths (affected side/healthy side) was analyzed and compared between the 2 groups, and the healing of the rotator cuff was evaluated by MRI at the last follow-up.Results:The 2 groups were comparable because there were no significant differences in all their preoperative demographic data ( P>0.05). The 32 patients were followed up for (14.3±3.5) months after surgery. At 3 months after surgery, the VAS score in the remnant-reservation group [1.0 (0.0,1.0) point] was significantly lower than that in the remnant-sacrifice group [1.0 (1.0,1.0) point] ( P<0.05), but there was no significant difference between the 2 groups in ASES score, Constant score or range of motion of the affected shoulder ( P>0.05). At the last follow-up, the ASES score, forward flexion, abduction and ratio of bilateral abductor muscle strengths (affected side/healthy side) in the remnant-reservation group [(96.1±4.8) points, 170.0 (170.0,170.0)°, 160.0 (160.0,170.0)°, and 85.5%±13.8%]were significantly better than those in the remnant-sacrifice group [(91.4±5.9) points, 160.0 (160.0,170.0)°, 150.0 (140.0,155.0)°, and 72.6%±16.9%] ( P < 0.05), but there were no statistically significant differences between the 2 groups in VAS score, Constant score, neutral external rotation angle, or body-side internal rotation ( P>0.05). The Sugaya grading for MRI rotator cuff healing was significantly different between the 2 groups at the last follow-up ( P<0.05). Conclusion:In arthroscopic repair of rotator cuff tear, reservation of remnants in the footprint area can significantly relieve postoperative shoulder pain, and has obvious advantages in restoration of shoulder forward flexion, abduction and abductor muscle strength, leading to better healing of the rotator cuff and the large nodule than the remnant-sacrifice technique.

Objective This paper aims to construct a scientific and standardized index system for evaluating the applica-tion effect of Diagnosis-Intervention Packet(DIP)in medical institutions.It seeks to determine the weights of indicators at all lev-els to provide a basis for evaluating the effectiveness of DIP used in various regions as well as a reference for improving DIP poli-cy.Methods This paper used literature analysis to develop an indicator pool preliminarily.The Delphi method was used to con-duct a questionnaire survey with 22 experts to establish the index system.It also used the Analytic Hierarchy Process(AHP)to determine the weight of each index.Results A total of two rounds of expert consultation questionnaires were conducted.The questionnaire exhibited high expert positive coefficients by 91.00％and 100.00％and higher authority coefficients of both 0.91 for two rounds.The coordination coefficients of the two rounds of expert consultation met the standard,and the expert opinions reached a consistence.Additionally,the questionnaire established comprised three primary indicators(efficiency of medical in-surance fund,medical service management,patient benefit,and satisfaction),9 secondary indicators,and 38 tertiary indicators.The AHP was used to determine the weight of indicators at all levels.Among the primary indicators,patient benefit and satisfac-tion had the highest weight(0.446 9).Among the secondary indicators,patients'medical cost burden had the highest weight(0.287 6).Among the tertiary indicators,the inpatient satisfaction had the highest weight(0.1592).The Cronbach's α coeffi-cients of the two rounds were＞0.7.Conclusion This paper utilized Delphi method and AHP to establish the evaluation system for assessing the implementation effectiveness of DIP.The approach is highly scientific and authoritative.It can be used to evalu-ate the application effect of DIP and provide an effective tool for medical insurance and hospital managers at all levels to assess DIP payment policies.

Objective:To construct a systematic, standardized, scientific and effective evaluation index system for standardized training of newly recruited nurses.Methods:By the literature review, applying the Delphi method and purpose sampling to conduct two rounds of expert consultations to 17 nursing experts from 5 medical units and 1 nursing school from October 2019 to April 2020 to construct the evaluation index system for standardized training of newly recruited nurses.Results:The recovery rates of the two rounds of expert consultation questionnaires were all 100%, and the expert authority coefficient was 0.92. The final evaluation index system for standardized training of newly recruited nurses included 4 first-level indicators (professional literacy, theoretical knowledge, nursing operation skills, and core competency of the post) , 17 second-level indicators, and 52 third-level indicators.Conclusions:The evaluation index system for standardized training of newly recruited nurses established in this study is systematic, scientific and effective, which can provide a reference for standardized training and evaluation of newly recruited nurses, and provide a theoretical basis and practical guidance for improving the training effect and quality.

Objective To evaluate the short-term clinical effect of arthroscopic repair of rotator cuff injury with all-suture anchor using a prospective and single-cohort clinical trial.Methods Twenty-five patients with rotator cuff injuries(1.5 cm0.05).Conclusion Arthroscopic rotator cuff repair with all-suture anchor is feasible and safe,and has good short-term clinical effect.

The construction of smart hospital is an important part of modern hospital management system,and it is also the key way to build the new system of high-quality hospital development.In terms of building smart hospitals,multi-campus hos-pitals face more difficulties and challenges than single campus hospitals,such as the lack of top-level design,the difficulty of in-tegrated management,the uneven development of hospitals and the widespread phenomenon of information islands.This study summarizes and analyzes the difficulties encountered in the construction and application of smart hospitals in multi-hospital areas.Guided by problems,it puts forward countermeasures and suggestions for the construction of refined and high-quality smart hospi-tals in multi-campus hospitals,including strengthening overall and forward-looking awareness,integrating management according to hospital conditions,characteristic development under demand guidance,establishing a data integration center for smart hospi-tals,scientific planning of talent reserve and discipline layout,etc.