GENEVIC: GENetic data exploration and visualization via intelli- gent interactive console.

SUMMARY: The vast generation of genetic data poses a significant challenge in efficiently uncovering valuable knowledge. Introducing GENEVIC, an AI-driven chat framework that tackles this challenge by bridging the gap between genetic data generation and biomedical knowledge discovery. Leveraging generative AI, notably ChatGPT, it serves as a biologist's 'copilot'. It automates the analysis, retrieval, and visualization of customized domain-specific genetic information, and integrates functionalities to generate protein interaction networks, enrich gene sets, and search scientific literature from PubMed, Google Scholar, and arXiv, making it a comprehensive tool for biomedical research. In its pilot phase, GENEVIC is assessed using a curated database that ranks genetic variants associated with Alzheimer's disease, schizophrenia, and cognition, based on their effect weights from the Polygenic Score (PGS) Catalog, thus enabling researchers to prioritize genetic variants in complex diseases. GENEVIC's operation is user-friendly, accessible without any specialized training, secured by Azure OpenAI's HIPAA-compliant infrastructure, and evaluated for its efficacy through real-time query testing. As a prototype, GENEVIC is set to advance genetic research, enabling informed biomedical decisions. AVAILABILITY AND IMPLEMENTATION: GENEVIC is publicly accessible at https://genevic- anath2024.streamlit.app. The underlying code is open-source and available via GitHub at https://github.com/bsml320/GENEVIC.git (also at https://github.com/anath2110/GENEVIC.git). SUPPLEMENTARY INFORMATION: Available at Bioinformatics online and at https://github.com/bsml320/GENEVIC_Supplementary.git (also at https://github.com/anath2110/GENEVIC_Supplementary.git).

MicroRNA-138 Increases Chemo-Sensitivity of Glioblastoma through Downregulation of Survivin.

Glioblastoma (GBM) is one of the most deadly cancers and poorly responses to chemotherapies, such as temozolomide (TMZ). Dysregulation of intrinsic signaling pathways in cancer cells are often resulted by dysregulated tumor suppressive microRNAs (miRNAs). Previously, we found miR-138 as one of tumor suppressive miRNAs that were significantly down-regulated in GBM. In this study, we demonstrated that ectopic over-expression of miR-138 sensitizes GBM cells to the treatment of TMZ and increased apoptotic cell death. Mechanistically, miR-138 directly repressed the expression of Survivin, an anti-apoptotic protein, to enhance caspase-induced apoptosis upon TMZ treatment. Using an intracranial GBM xenograft mice model, we also showed that combination of miR-138 with TMZ increases survival rates of the mice compared to the control mice treated with TMZ alone. This study provides strong preclinical evidence of the therapeutic benefit from restoration of miR-138 to sensitize the GBM tumor to conventional chemotherapy.

[G6PD deficiency among children under 7 years old from Yunnan with unique ethnic minority origin].

OBJECTIVE: To investigate the epidemiological status of glucose-6-phosphate dehydrogenase (G6PD) deficiency among children from Yunnan with unique ethnic origins. METHODS: DNA samples from 11759 children were tested with fluorescent spot test, G6PD/6PGD quantitative ratio assay and hemoglobin electrophoresis. RESULTS: The detection rate of G6PD deficiency was 2.5%, for which boys were significantly greater than girls (3.5% vs. 1.4%, P<0.05). Significant differences were also detected among children from different ethnic groups and different regions. For ethnic Han Chinese, the detection rate was 0.7%, which was lower than the majority of ethnic minorities. By regression analysis, altitude of residence and family history both have significant influence on the calculated rate. CONCLUSION: Occurrence of G6PD deficiency seems to be influenced by gender. It also varies substantially between different ethnic groups as well as regions, e.g., more common in south. It also showed a declining trend after years of diagnosis and intervention. This survey may provide a valuable basis for counseling of G6PD deficiency in Yunnan.

[A survey on anemia among children under 7 years of age from 15 minority ethnic groups in Yunnan].

OBJECTIVE: To investigate the level and distribution characteristics of anemia of the minority ethnic group children in Yunnan. METHOD: The cases with anemia were surveyed from 13 336 samples of 15 minority ethnic groups and Han children in Yunnan by Taking the method of random cluster sampling. RESULT: The prevalence of anemia among the children under 7 years of age of 15 ethnic groups of minority in Yunnan was 13.6%. There are differences among the different ethnic groups (χ(2) = 716.33, P < 0.01), the highest was 26.6% in Jingpo, the lowest was 3.5% in Bai. There were differences among the different regions, the prevalence of anemia was high in the border regions City, the highest was 23.8% in Dehong; the prevalence of anemia was low in inland cities, the lowest was 2.7% in Fugong, and was higher in border areas. The prevalence of anemia was higher in boys (13.6%) than in girls (12.1%). There were differences among the different age in the different ethnic groups (6 months to 1 years old: χ(2) = 70.52, P < 0.01; 1 - 2 years old:χ(2) = 185.86, P < 0.01; 2 - 5 years old: χ(2) = 296.12, P < 0.01; 5 - 6 years old:χ(2) = 107.11, P < 0.01; 6 - 7 years old:χ(2) = 185.02, P < 0.01), the highest was 59.0% of Deang in 1 to 2 years old children. The trend of change was that the highest prevalence was seen in 6 months to 1 year old children, the prevalence gradually declined among older children, but rose again in children 6 years of age or older. CONCLUSION: The prevalence of anemia was 13.6% among the children of 15 ethnic minority under 7 years of age in Yunnan. There were differences among different ethnic groups of minority in different prefectures. There were differences among different ethnic groups of different age groups, but it was highest in 6 months to 1 year old children, it declined among older children, and rose in children 6 years of age or older. The prevalence of anemia was related to the ethnic and geographic factors.

[Soil salinity in greenland irrigated with reclaimed water and risk assessment].

Compared to drinking water or groundwater, reclaimed water contains more salts. Therefore, the effects of application of reclaimed water on the soil salinity have received great attentions. To evaluate the potential risks posed by long-term reclaimed water irrigation, we collected surface soil samples from urban green lands and suburban farmlands of Beijing represented different irrigation durations. The electrical conductivity (EC) and sodium adsorption ratio (SAR) in soils were measured subsequently. Both EC1:5 and SAR1.5 from the green land and farmland soils irrigated with reclaimed water were significantly higher than those of control treatments (drinking water or groundwater irrigation). The EC1:5 values increased by 12.4% and 84.2% than control treatments in the greenland and farmland, respectively. The SAR1:5 values increased by 64.5% and 145.8% than control treatments, respectively. No significant differences of both EC1:5 and SAR1:5 were found between of 0-10 cm and 10-20 cm soil layer. A slight decrease of soil porosity was observed. The field investigation suggested there was a high potential of soil salinization under long-term reclaimed water irrigation. Proper management practices should be implemented to minimize the soil salinity accumulation risk when using reclaimed water for irrigation in Beijing.

[Modeling the Cd accumulation in agricultural soil irrigated with reclaimed water].

Recent years, soil pollution of heavy metal has affected human life seriously, especially in farmland. Heavy metal pollution in farmland is mainly caused by irrigation, fertilizing and atmospheric fallout. As the character of heavy metal input in farmland is chronic and low dosage, application of model would be more suitable than routine methods to illustrate the dynamic changes of heavy metals in soil. In this paper, we use the model of STEM-profile to analyze and predict Cd pollution in farmland in Tongzhou, Beijing, based on the data from field survey. The results showed that: the concentration of Cd in this land would exceed the national soil environment standard after 100 years under current situations, reaching 0.866 mg x kg(-1) in plow layer. Studies of the influence of the amount and the form of inputs and the amount of irrigation water on the distribution of Cd in soil showed that irrigated with reclaimed water or fertilized with organic manure could lead to accumulation of Cd in the soil, while groundwater irrigation with inorganic fertilization would not cause accumulation of Cd in soil. When Cd inputs changed from mineral to organic form, the concentration of Cd in plow layer would be 0.943 mg x kg(-1) after 100 year. When the amount of irrigation water increased from 0.8 ET to 1.5 ET and to 2.0 ET, the plow layer Cd content would be 0.952, 0.784 and 0.638 mg x kg(-1) respectively.

[Epidemiological study of thalasaemia among children in Xishuangbanna, Dehong and Nujiang of Yunnan province].

OBJECTIVE: To investigate the carrier rate of thalasaemia among the children of 10 minority ethnic groups in 3 border states (Xishuangbanna, Dehong and Nujiang) of Yunnan Province. METHODS: A total of 6562 samples of children under 10 years old were analyzed by blood cell automatic analysis and hemoglobin electrophoresis. RESULTS: The overall carrier frequency of thalasaemia was highest (46.2%) in Dehong, and lowest (30.6%) in Nujiang. The carrier frequency of beta-thalasaemia was the highest (40.6%) in Achang, and lowest (2.5%) in Dulong. The carrier frequency of alpha-thalasaemia was the highest (22.1%) in Dai from Xishuangbanna, followed by Dulong (19.1%). CONCLUSION: Thalasaemia carrier rates were high among the children of 10 minority ethnic groups in Yunnan. There were regional differences in their incidences. The results provide a valuable basis for thalasaemia prevention in Yunnan minorities in the three border states.

[Epidemiological study on thalassemia among the children of 0 - 7 years old among the six ethnic groups in Xishuangbanna and Dehong of Yunnan province].

OBJECTIVE: To investigate the prevalence rate of thalassemia among children of 0 - 7 years old, from six ethnic groups in Xishuangbanna and Dehong, Yunnan province. METHODS: 4973 blood samples from children under 7 years old were automatically undergone blood cell count, red cell osmotic fragility and hemoglobin electrophoresis testings. RESULTS: The incidence rates of thalassaemia, ß-thalassemia was 37.4%, and α-thalassaemia were 22.6% and 14.7% respectively. The thalassaemia incidence rates were significantly different among age groups but not in gender. The incidence of α-thalassaemia was decreasing along with the increase of age, while the incidence of ß-thalassaemia was increasing along with the increase of age. Xishuangbanna had the higher incidence than in Dehong and the differences were significant between counties, The incidence of thalassemia of Mengla ranked the first (52.2%) in Xishuangbanna, The differences between different regions and different nationalities were significant, with ß-thalassemia of Achang ranked the first (40.6%), The incidence of α-thalassemia among Han ranked the first as 45.5% while α-thalassaemia and ß-thalassemia were different in regions. α-thalassaemia and ß-thalassemia were significantly different between different ethnic people in the same regions. Multiple factor analysis showed that region seemed to be a risk factor and the mother's ethnicity was a protective factor and dependent variable on thalassaemia. CONCLUSION: The incidence of thalassaemia in Yunnan Xishuangbanna and Dehong was high among children under the age of 7 and were related to ethnic and regional differences in the areas. Specific genes were proliferated along with the extension of time. Our data provided valuable information on prevention and genetic studies on thalassaemia in the minorities of Xishuangbanna and Dehong in Yunnan province.