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 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.