Genetic testing and molecular biomarkers最新文献

{"title":"Association of Apolipoprotein A5 Gene Variants with Hyperlipidemic Acute Pancreatitis in Southeastern China.","authors":"Yingyi Li,&nbsp;Hehui Cai,&nbsp;Yancheng Lin,&nbsp;Zhipeng Huang,&nbsp;Apei Zhou,&nbsp;Tianhao Huang,&nbsp;Yue-E Zeng,&nbsp;Meizhen Ye,&nbsp;Guiyuan Guo,&nbsp;Zicheng Huang","doi":"10.1089/gtmb.2023.0107","DOIUrl":"10.1089/gtmb.2023.0107","url":null,"abstract":"<p><p><b><i>Background:</i></b> Apolipoprotein A5 (APOA5) is involved in serum triglyceride (TG) regulation. Several studies have reported that the rs651821 locus in the <i>APOA5</i> gene is associated with serum TG levels in the Chinese population. However, no research has been performed regarding the association between the variants of rs651821 and the risk of hyperlipidemic acute pancreatitis (HLAP). <b><i>Methods:</i></b> A case-control study was conducted and is reported following the STROBE guidelines. We enrolled a total of 88 participants in this study (60 HLAP patients and 28 controls). <i>APOA5</i> was genotyped using PCR and Sanger sequencing. Logistic regression models were conducted to calculate odds ratios and a 95% confidence interval. <b><i>Results:</i></b> The genotype distribution of the rs651821 alleles in both groups follow the Hardy-Weinberg distribution. The frequency of the \"C\" allele in rs651821 was increased in HLAP patients compared to controls. In the recessive model, subjects with the \"CC\" genotype had an 8.217-fold higher risk for HLAP (OR = 8.217, 95% CI: 1.023-66.01, <i>p</i> = 0.046) than subjects with the \"TC+TT\" genotypes. After adjusting for sex, the association remained significant (OR = 9.898, 95% CI: 1.176-83.344, <i>p</i> = 0.035). Additionally, the \"CC\" genotype was related to an increased TG/apolipoprotein B (APOB) ratio and fasting plasma glucose (FPG) levels. <b><i>Conclusions:</i></b> Our findings suggest that the C allele of rs651821 in <i>APOA5</i> increases the risk of HLAP in persons from Southeastern China.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 9","pages":"284-289"},"PeriodicalIF":1.4,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10541917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41129751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Ratio of miR-122 to miR-20a (miR-122/miR-20a) Is a Useful Minimally Invasive Biomarker for Non-Alcoholic Fatty Liver Disease Detection.","authors":"Yuji Hattori,&nbsp;Hiroya Yamada,&nbsp;Eiji Munetsuna,&nbsp;Ryosuke Fujii,&nbsp;Yoshitaka Ando,&nbsp;Mirai Yamazaki,&nbsp;Genki Mizuno,&nbsp;Yoshiki Tsuboi,&nbsp;Yuya Ishihara,&nbsp;Naohiro Ichino,&nbsp;Keiko Sugimoto,&nbsp;Keisuke Osakabe,&nbsp;Hiroaki Ishikawa,&nbsp;Koji Ohashi,&nbsp;Koji Suzuki","doi":"10.1089/gtmb.2022.0155","DOIUrl":"https://doi.org/10.1089/gtmb.2022.0155","url":null,"abstract":"<p><p><b><i>Background:</i></b> The increasing prevalence of non-alcoholic fatty liver disease (NAFLD) has become a global health problem. NAFLD has few initial symptoms and may be difficult to detect early, so there is need for a minimally invasive early detection marker. We hypothesized that miR-122 and miR-20a levels combined, as the miR-122/miR-20a ratio might detect NAFLD more sensitively. <b><i>Methods:</i></b> This study involved 167 participants with low alcohol intake. Those who had an increase in echogenicity of the liver parenchyma and hepato-renal contrast on ultrasonography were classified as the NAFLD group (<i>n</i> = 44), which was further classified into mild (<i>n</i> = 26) and severe (<i>n</i> = 18) groups based on echogenic intensity and hepatic vessel and diaphragm visualization. Participants without fatty liver were included in the normal group, except for those with an abnormal body mass index, glycated hemoglobin, and systolic blood pressure (<i>n</i> = 123) values. Serum miR-122 and miR-20a expression levels in participants were measured by real-time polymerase chain reaction, and the miR-122/miR-20a was calculated. <b><i>Results:</i></b> In the NAFLD group, miR-122 expression was significantly higher and the miR-20a was significantly lower than in the normal group, in agreement with previous studies. miR-122/miR-20a was also significantly higher in the NAFLD group. Receiver operating characteristic curve analysis was performed with miR-122/miR-20a as an NAFLD detection marker, and the area under the curve of miR-122/miR-20a was significantly larger than that of miR-122 or miR-20a alone. <b><i>Conclusions:</i></b> The miR-122/miR-20a ratio, combined with miR-122 and miR-20a levels, is a useful biomarker to detect NAFLD with high sensitivity.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 8","pages":"239-247"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10175391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Circulating Plasma miR-122 and miR-583 Levels Are Involved in Chronic Hepatitis B Virus Pathogenesis and Serve As Novel Diagnostic Biomarkers.","authors":"Fedra Mokhtari,&nbsp;Hami Kaboosi,&nbsp;Seyed Reza Mohebbi,&nbsp;Hamid Asadzadeh Aghdaei,&nbsp;Mohammad Reza Zali","doi":"10.1089/gtmb.2023.0013","DOIUrl":"https://doi.org/10.1089/gtmb.2023.0013","url":null,"abstract":"<p><p><b><i>Background:</i></b> MicroRNAs regulate many biological processes and are involved in the pathogenesis of many diseases including chronic hepatitis B (CHB). Moreover, besides investigation of their roles in hepatitis B virus (HBV) infection, a noninvasive, sensitive, and specific biomarker is essential in the diagnosis of liver diseases. This study was designed to evaluate the role of miR-122, miR-583, and miR-24 in the pathogenesis of CHB both in active chronic hepatitis (ACH) patients and in inactive carriers (IC). <b><i>Materials and Methods:</i></b> Plasma samples and all relevant clinical features were collected from 43 patients with CHB (28 ACH and 15 IC) and 43 healthy controls. Quantitative real-time PCR was performed to detect the plasma levels of miR-122, miR-583, and miR-24. <b><i>Results:</i></b> Results show miR-122 (<i>p</i> = 0.0001) and miR-583 (<i>p</i> = 0.006) but not miR-24 (<i>p</i> = 0.65) were upregulated in patients with CHB versus the control group. Interestingly, there was a significant increase in the plasma expression of miR-583 in IC versus ACH. Moreover, receiver operating characteristic curve analysis determined plasma levels of miR-122 (area under the ROC curve [AUC] = 0.89, <i>p</i> < 0.0001, sensitivity: 100%, specificity: 62.5%) and miR-583 (AUC = 0.71, <i>p</i> = 0.0007, sensitivity: 90%, specificity: 47.62%) as sensitive biomarkers to discriminate CHB patients from controls. <b><i>Conclusion:</i></b> Our data showed an increase in the plasma levels of miR-583 in IC versus ACH patients. Moreover, we demonstrated that miR-122 and miR-583 may serve as potential biomarkers for CHB diagnosis and activity.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 8","pages":"232-238"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10475345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Pair of Compound Heterozygous Mutation of <i>EYS</i> in a Han Chinese Family with Retinitis Pigmentosa.","authors":"Chao Dai,&nbsp;Weiming Ren,&nbsp;Yao Wei,&nbsp;Chunbao Xie,&nbsp;Suyang Duan,&nbsp;Qi Li,&nbsp;Lingxi Jiang,&nbsp;Yi Shi","doi":"10.1089/gtmb.2023.0016","DOIUrl":"https://doi.org/10.1089/gtmb.2023.0016","url":null,"abstract":"<p><p><b><i>Background:</i></b> Retinitis pigmentosa (RP) is a complex inherited and progressive degenerative retinal disease. The eyes shut homolog (<i>EYS</i>) is frequently associated with RP is surprisingly high. Exploring the function of EYS is quite difficult due to the unique gene size and species specificity. Gene therapy may provide a breakthrough to treat this disease. Therefore, exploring and clarifying pathogenic mutations of <i>EYS</i>-associated RP has important guiding significance for clinical treatment. <b><i>Methods:</i></b> Clinical and molecular genetic data for <i>EYS</i>-associated RP were retrospectively analyzed. Sanger sequencing was applied to identify novel mutations in these patients. Candidate pathogenic variants were subsequently evaluated using bioinformatic tools. <b><i>Results:</i></b> A novel pair of compound heterozygous mutations was identified: a novel stop-gain mutation c.2439C>A (p.C813fsX) and a frameshift deletion mutation c.6714delT (p. P2238fsX) of the <i>EYS</i> gene in the RP family. Both of these mutations were rare or absent in the 1000 Genomes Project, dbSNP, and Genome Aggregation Database (gnomAD). These two mutations would result in a lack of multiple functionally important epidermal growth factor-like and Laminin G-like coding regions in EYS. <b><i>Conclusions:</i></b> A novel compound heterozygote of the <i>EYS</i> gene in a Chinese family with an autosomal inheritance pattern of RP was identified. Identifying more pathogenic mutations and expanding the mutation spectrum of the <i>EYS</i> gene will contribute to a more comprehensive understanding of the molecular pathogenesis of RP disease that could be gained in the future. It also could provide an important basis for the diagnosis, clinical management, and genetic counseling of the disease.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 8","pages":"258-266"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10475351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"LINC00891 Attenuates the Proliferation and Metastasis of Osteosarcoma Cells via miR-27a-3p/TET1 Axis.","authors":"Shufang Zhang,&nbsp;Rongchun Chen","doi":"10.1089/gtmb.2023.0163","DOIUrl":"https://doi.org/10.1089/gtmb.2023.0163","url":null,"abstract":"<p><p><b><i>Objective:</i></b> There is currently no adequate treatment for osteosarcoma, a bone malignancy that poses a serious threat to adolescents and children. The dysregulation of long noncoding RNAs is associated with many cancers, including osteosarcoma. LINC00891 expression is aberrant in endometrial cancer, lung cancer, and thyroid cancer, and likely regulate the malignant behavior of cancer. However, the potential function and mechanisms of LINC00891 in osteosarcoma progression remain unclear. <b><i>Materials and Methods:</i></b> LINC00891, miR-27a-3p, and TET1 mRNA expression in osteosarcoma cells were analyzed using quantitative reverse transcription-polymerase chain reaction. CCK-8 and Transwell experiments were performed on osteosarcoma cells to investigate proliferation, migration, and invasion, respectively. Ten-eleven translocation 1 (TET1) protein was analyzed using western blotting. Luciferase experiment was performed to investigate the interactions between LINC00891 with miR-27a-3p, and miR-27a-3p with TET1. <b><i>Results:</i></b> LINC00891 expression was dramatically decreased in the five osteosarcoma cell lines examined, particularly in 143B and SaoS-2 cells. LINC00891 overexpression due to plasmid transfection sharply blocked the proliferation, migration, and invasion of osteosarcoma cells. Dual-luciferase reporter experiments found that LINC00891 sponges miR-27a-3p, and LINC00891 overexpression sharply decreases miR-27a-3p expression. Transfection with miR-27a-3p mimic accelerated the malignant behaviors in LINC00891 overexpressed-osteosarcoma cells. Moreover, TET1 was a novel targeted-gene of miR-27a-3p. TET1 protein was significantly impeded, whereas LINC00891 overexpression elevated TET1 mRNA and protein in osteosarcoma cells. MiR-27a-3p overexpression inhibited TET1 mRNA and protein in osteosarcoma cells. <b><i>Conclusions:</i></b> Our study verified that LINC00891 attenuates the proliferation and metastasis of osteosarcoma cells via the miR-27a-3p/TET1 axis. This study clarifies a new mechanism and therapeutic target for the development of osteosarcoma.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 8","pages":"248-257"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10149747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnose Quickly and Effectively: Now.","authors":"Dawn Barry,&nbsp;Sharon F Terry","doi":"10.1089/gtmb.2023.29075.persp","DOIUrl":"https://doi.org/10.1089/gtmb.2023.29075.persp","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 8","pages":"229-231"},"PeriodicalIF":1.4,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10475343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of <i>RAD51</i>, <i>XRCC1</i>, <i>XRCC2</i>, and <i>XRCC3</i> Polymorphisms with Risk of Breast Cancer.","authors":"Priyanka Gupta,&nbsp;Vasudha Sambyal,&nbsp;Kamlesh Guleria,&nbsp;Manjit Singh Uppal,&nbsp;Meena Sudan","doi":"10.1089/gtmb.2023.0012","DOIUrl":"https://doi.org/10.1089/gtmb.2023.0012","url":null,"abstract":"<p><p><b><i>Background:</i></b> DNA repair genes are among the low-penetrance genes implicated in breast cancer. However variants of DNA repair genes may alter their protein function thus leading to carcinogenesis. Breast cancer is the most common cancer among women in India. The aim of the present study was to identify association, if any, of single nucleotide polymorphisms (SNP's) in four genes involved in DNA repair pathways including, <i>RAD51</i> rs1801320, <i>XRCC1</i> rs25487, <i>XRCC2</i> rs3218536, and <i>XRCC3</i> rs861539 with the risk of breast cancer. <b><i>Materials and Methods:</i></b> In this case-control study 611 female subjects (311 breast cancer patients and 300 healthy controls) were screened for four SNPs using polymerase chain reaction-restriction fragment length polymorphism analyses. Multifactor dimensionality reduction (MDR) analysis was performed to estimate the gene-gene interaction. Protein-protein interaction network analysis were studied using the STRING database. <b><i>Results:</i></b> The GC genotype (<i>p</i> = 0.018) and the combined GC+CC (<i>p</i> = 0.03) genotypes of <i>RAD51</i> rs1801320 were significantly associated with reduced risk of breast cancer. The CT genotype (<i>p</i> = 0.0001), the combined CT+TT genotypes (<i>p</i> = 0.0002), and the T allele (<i>p</i> = 0.0019) of <i>XRCC3</i> rs861539 polymorphism were associated with reduced risk of the breast cancer. No association of <i>XRCC1</i> rs25487 and <i>XRCC2</i> rs3218536 polymorphisms with breast cancer was observed. MDR analysis indicated a positive interaction between <i>XRCC3</i> and <i>XRCC2</i>. String network analysis showed that the RAD51, XRCC1, XRCC2, and XRCC3 proteins are in strong interaction with each other and other breast cancer-related proteins such as BRCA2. <b><i>Conclusion:</i></b> <i>RAD51</i> rs1801320 and <i>XRCC3</i> rs861539 polymorphisms were associated with reduced risk of breast cancer. There is evidence of positive interactions among <i>XRCC1</i>, <i>XRCC2</i>, <i>XRCC3</i>, and <i>RAD51</i>.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 7","pages":"205-214"},"PeriodicalIF":1.4,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10277145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Otitis Media in Children with Down Syndrome Is Associated with Shifts in the Nasopharyngeal and Middle Ear Microbiotas.","authors":"Christina L Elling, Salina H Goff, Scott D Hirsch, Kaitlyn Tholen, Jennifer M Kofonow, Danielle Curtis, Charles E Robertson, Jeremy D Prager, Patricia J Yoon, Todd M Wine, Kenny H Chan, Melissa A Scholes, Norman R Friedman, Daniel N Frank, Brian W Herrmann, Regie Lyn P Santos-Cortez","doi":"10.1089/gtmb.2023.0132","DOIUrl":"10.1089/gtmb.2023.0132","url":null,"abstract":"<p><p><b><i>Background:</i></b> Otitis media (OM) is defined as middle ear (ME) inflammation that is usually due to infection. Globally, OM is a leading cause of hearing loss and is the most frequently diagnosed disease in young children. For OM, pediatric patients with Down syndrome (DS) demonstrate higher incidence rates, greater severity, and poorer outcomes. However, to date, no studies have investigated the bacterial profiles of children with DS and OM. <b><i>Method:</i></b> We aimed to determine if there are differences in composition of bacterial profiles or the relative abundance of individual taxa within the ME and nasopharyngeal (NP) microbiotas of pediatric OM patients with DS (<i>n</i> = 11) compared with those without DS (<i>n</i> = 84). We sequenced the 16S rRNA genes and analyzed the sequence data for diversity indices and relative abundance of individual taxa. <b><i>Results:</i></b> Individuals with DS demonstrated increased biodiversity in their ME and NP microbiotas. In children with OM, DS was associated with increased biodiversity and higher relative abundance of specific taxa in the ME. <b><i>Conclusion:</i></b> Our findings suggest that dysbioses in the NP of DS children contributes to their increased susceptibility to OM compared with controls. These findings suggest that DS influences regulation of the mucosal microbiota and contributes to OM pathology.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 7","pages":"221-228"},"PeriodicalIF":1.1,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494904/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10216039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the Clinical Application of Automatic Chromosome Harvesting for Prenatal Karyotype Analysis.","authors":"Yunmeng Wang,&nbsp;Yifan Feng,&nbsp;Chanchan Ma,&nbsp;Jing Zhao,&nbsp;Shiying Sun","doi":"10.1089/gtmb.2023.0047","DOIUrl":"10.1089/gtmb.2023.0047","url":null,"abstract":"<p><p><b><i>Objective:</i></b> The clinical value of an automatic chromosome harvester was evaluated, which included a comparison between the manual and automatic harvesting for the isolation of amniotic fluid cell chromosomes. <b><i>Methods:</i></b> Amniotic fluid samples from 96 high-risk gravida cases identified at 17-25 weeks treated at the Prenatal Diagnostic and Reproductive Center from June to July 2022 were collected. These samples underwent both manual and automatic chromosome collection, and their harvest time and number of amniotic cells were compared. These chromosomes were then used to produce karyotypic data for each sample using an automatic chromosomal karyotype analysis system, scan karyotype. <b><i>Results:</i></b> The average automatic harvesting time per sample, 3.92 min, was significantly lower than that of the manual harvesting, 7.89 min (<i>p</i> < 0.001). In addition, the average number of cells from the automatic harvesting (4.16 × 10⁶ pieces) was significantly increased when compared with those of the manual group (2.10 × 10⁶ pieces; <i>p</i> < 0.001). Further karyotyping revealed that both sets of chromosomes produced clear bands and good dispersion data, producing no significant differences in these evaluations (<i>p</i> > 0.05). However, the number of analyzable karyotypes obtained using the automatic harvester was significantly higher than those of the manual harvesting (<i>p</i> < 0.001). <b><i>Conclusions:</i></b> The automatic chromosome harvester can effectively save time, manual labor and consumables, harvest more analyzable karyotypes, and improve the efficiency of clinical diagnosis. The automatic chromosome harvester is highly stable and repeatable, which has the potential to help achieve large-scale standardized chromosome harvesting and is worthy of widespread clinical promotion.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 7","pages":"215-220"},"PeriodicalIF":1.4,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9895544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Application of Artificial Intelligence in the Diagnosis of Cancer and Rare Genetic Diseases.","authors":"Danielle Donadio,&nbsp;Sharon F Terry","doi":"10.1089/gtmb.2023.29074.persp","DOIUrl":"https://doi.org/10.1089/gtmb.2023.29074.persp","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"27 7","pages":"203-204"},"PeriodicalIF":1.4,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10117425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}