Annals of Laboratory Medicine最新文献

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Clinical Values of Combined Detection of Serum Cystatin C, β2-Microglobulin, and Urine Transferrin in Diagnosing Early Primary Glomerulonephritis. 联合检测血清胱抑素 C、β2-微球蛋白和尿转铁蛋白对诊断早期原发性肾小球肾炎的临床价值
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-05-01 Epub Date: 2025-03-21 DOI: 10.3343/alm.2024.0489
Xueqi Zhang, Xueying Bao, Cuicui Wu, Binxian Li, Mingcheng Li
{"title":"Clinical Values of Combined Detection of Serum Cystatin C, β2-Microglobulin, and Urine Transferrin in Diagnosing Early Primary Glomerulonephritis.","authors":"Xueqi Zhang, Xueying Bao, Cuicui Wu, Binxian Li, Mingcheng Li","doi":"10.3343/alm.2024.0489","DOIUrl":"10.3343/alm.2024.0489","url":null,"abstract":"<p><p>Despite primary glomerulonephritis (PGN) being a leading cause of chronic kidney disease and end-stage renal disease, specific and sensitive biomarkers for the early detection and monitoring of this condition are lacking. We evaluated the value of the combined detection of serum cystatin C (CYSC), β2-microglobulin (β2-MG), and urine transferrin (TRF) for diagnosing early-stage PGN. From May 2021 to May 2023, we enrolled 105 patients in our hospital as the observation group and 50 healthy volunteers as the control group. Their serum expression levels of CYSC, β2-MG, and TRF were evaluated. We plotted separate ROC curves and calculated the area under the curve (AUC) values of CYSC, β2-MG, and TRF to assess their diagnostic performance in PGN. The levels of CYSC, β2-MG, and TRF were significantly higher (<i>P</i> <0.05) in the observation group than in the healthy control group. CYSC, β2-MG, and TRF were expressed at significantly higher levels in G2, G3a, and G3b of PGN than in G1. The combined use of CYSC, β2-MG, and TRF as biomarkers could significantly improve the early diagnosis and monitoring of PGN and may lead to better patient outcomes by facilitating earlier intervention and treatment strategies.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"329-333"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143668931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epidemiology of Nontyphoidal Salmonella Infections in Korean Children and Genetic Factors Associated with Extra-intestinal Invasion: A Whole-genome Sequencing Analysis. 韩国儿童非伤寒沙门氏菌感染的流行病学和与肠道外侵袭相关的遗传因素:全基因组测序分析。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-05-01 Epub Date: 2025-04-04 DOI: 10.3343/alm.2024.0378
Hyun Mi Kang, Jiyon Chu, In Hyuk Yoo, In Young Yoo, Jeong-Ih Shin, Mi-Ran Seo, Yeun-Jun Chung, Seung-Hyun Jung, Yeon Joon Park
{"title":"Epidemiology of Nontyphoidal <i>Salmonella</i> Infections in Korean Children and Genetic Factors Associated with Extra-intestinal Invasion: A Whole-genome Sequencing Analysis.","authors":"Hyun Mi Kang, Jiyon Chu, In Hyuk Yoo, In Young Yoo, Jeong-Ih Shin, Mi-Ran Seo, Yeun-Jun Chung, Seung-Hyun Jung, Yeon Joon Park","doi":"10.3343/alm.2024.0378","DOIUrl":"10.3343/alm.2024.0378","url":null,"abstract":"<p><strong>Background: </strong>Understanding the virulence and pathogenicity of invasive nontyphoidal <i>Salmonella</i> (iNTS) in children may support timely treatment and enable closer monitoring of chronic infections. iNTS epidemiology in Asia remains inadequately described. We analyzed the genetic diversity and virulence genes associated with extra-intestinal invasion in Korean children.</p><p><strong>Methods: </strong>Salmonella isolates from children <18 yrs of age diagnosed with moderate-to-severe salmonellosis between January 2019 and December 2021 were subjected to antibiotic susceptibility testing and whole-genome sequencing.</p><p><strong>Results: </strong>In total, 58 cases were included. We identified 20 serotypes, the most prevalent being <i>Salmonella</i> Enteritidis (N=21), followed by Infantis (N=6), I 4,[5],12:i:- (N=5), and Bareilly (N=5). Extra-intestinal invasion occurred in 12 (20.7%) cases involving <i>Salmonella</i> Oranienburg (2/2), Give (1/1), Javiana (1/1), Paratyphi B var. L(+) tartrate+ (1/1), Schwarzengrund (1/1), Singapore (1/1), Montevideo (1/2), Saintpaul (1/2), I 4:b:- (1/2), Infantis (1/6), and Enteritidis (1/21). While the numbers of total virulence genes and genes belonging to major virulence categories did not significantly differ between iNTS and non-iNTS, several genetic factors, including <i>Salmonella</i> pathogenicity island (SPI)-1 (<i>P</i> =0.039), SPI-2 (<i>P</i> =0.020), SPI-5 (<i>P</i> =0.014), SPI-13 (<i>P</i> =0.010), cytolethal distending toxin-related genes (<i>P</i> =1.4×10<sup>-4</sup>), <i>fepC</i> (<i>P</i> =0.021), and <i>tcpC</i> (<i>P</i> =0.040) were more frequent in invasive isolates.</p><p><strong>Conclusions: </strong><i>Salmonella</i> Enteritidis-ST11 predominated in infections among Korean children, but invasive isolates were rare. Early detection of genetic factors associated with extra-intestinal invasion will be helpful for prompt and appropriate treatment.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"312-321"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996685/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current Status of Standardization of Glomerular Filtration Rate Markers in Korea. 韩国肾小球滤过率指标标准化现状。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-05-01 Epub Date: 2025-03-17 DOI: 10.3343/alm.2024.0702
Tae-Dong Jeong
{"title":"Current Status of Standardization of Glomerular Filtration Rate Markers in Korea.","authors":"Tae-Dong Jeong","doi":"10.3343/alm.2024.0702","DOIUrl":"10.3343/alm.2024.0702","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"272-275"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ABO Antibody Titer Testing Harmonization in Korea: A 5-Year Analysis of External Quality Control Data. ABO抗体滴度检测在韩国的统一:一个5年的外部质量控制数据分析。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-05-01 Epub Date: 2025-04-02 DOI: 10.3343/alm.2024.0521
Han Joo Kim, Yousun Chung, Sang-Hyun Hwang, Heung-Bum Oh, Hyungsuk Kim, Dae-Hyun Ko
{"title":"ABO Antibody Titer Testing Harmonization in Korea: A 5-Year Analysis of External Quality Control Data.","authors":"Han Joo Kim, Yousun Chung, Sang-Hyun Hwang, Heung-Bum Oh, Hyungsuk Kim, Dae-Hyun Ko","doi":"10.3343/alm.2024.0521","DOIUrl":"10.3343/alm.2024.0521","url":null,"abstract":"<p><p>Current ABO titration methods lack standardization and harmonization. We analyzed the consistency of ABO antibody titer testing among Korean laboratories and discussed future directions for standardization by analyzing external quality control data collected by the Korean Association of External Quality Assessment Service over 5 yrs (2019-2023). The analysis included the number of participating institutions and methods, as well as the proportion of acceptable results. To compare column agglutination technology (CAT) and tube methods, we created a normalized variable: ([log<sub>2</sub> titer of laboratory test result]-[mean of log<sub>2</sub> titer for the peer group]). The number of participating institutions and methods increased over time. The use of CAT methods expanded, whereas that of tube methods declined. The proportion of acceptable results ranged from 84.0% to 100%, with no significant differences between CAT and tube methods. An F-test revealed no significant variance differences among institutions using these methods. Tube methods demonstrated lower variance in anti-human globulin testing, and room temperature tube methods exhibited lower variance than that of CAT methods. Domestic laboratories demonstrated highquality performance in ABO antibody titer testing, with no significant differences in acceptable result rates or variance across methods. Continuous efforts toward standardization remain essential.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"334-338"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996683/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Adjustment Formula for Harmonizing Triglyceride Values in the Korea National Health and Nutrition Examination Survey, 2005-2022. 2005-2022年韩国国家健康和营养检查调查中甘油三酯值协调调整公式。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-05-01 Epub Date: 2025-04-02 DOI: 10.3343/alm.2024.0317
Rihwa Choi, Jong Do Seo, Eun-Jung Cho, Woochang Lee, Yeo-Min Yun
{"title":"Adjustment Formula for Harmonizing Triglyceride Values in the Korea National Health and Nutrition Examination Survey, 2005-2022.","authors":"Rihwa Choi, Jong Do Seo, Eun-Jung Cho, Woochang Lee, Yeo-Min Yun","doi":"10.3343/alm.2024.0317","DOIUrl":"10.3343/alm.2024.0317","url":null,"abstract":"<p><strong>Background: </strong>Korea National Health and Nutrition Examination Survey (KNHANES) triglyceride testing changed from the glycerol blanking method (2005-2021) to the glycerol nonblanking method (2022). We converted triglyceride data from 2005-2021 to that obtained since 2022 with different analytical methods.</p><p><strong>Methods: </strong>To develop a conversion equation, 98 fresh serum specimen pairs were compared using Passing-Bablok regression analysis. Implications of the conversion equation on epidemiological data were evaluated using KNHANES data from 2019-2021. Bias estimations determined using the Lipid Standardization Program (LSP) of the United States Centers for Disease Control and Prevention (CDC) enhanced the accuracy and comparability of the triglyceride results.</p><p><strong>Results: </strong>Triglyceride concentrations measured via the glycerol non-blanking method were 10.7 mg/dL (0.12 mmol/L, 10.0%) higher than those from the glycerol blanking method, with a 9.9 mg/dL (0.11 mmol/L, 5.0%) difference at a concentration of 200 mg/dL (2.26 mmol/L, N=98). The conversion equation <i>y</i> (glycerol non-blanking, 2022)=11.94+0.99<i>x</i> (glycerol blanking, 2005-2021) changed the mean triglyceride concentrations of the KNHANES 2019-2021 data (N=16,015) from 123.7 mg/dL (1.40 mmol/L, 95% confidence interval [CI]: 122.2-125.1 mg/dL [1.38-1.41 mmol/L]) to 134.3 mg/dL (1.52 mmol/L, 95% CI: 132.9-135.8 mg/dL [1.50-1.53 mmol/L]). Since 2022, bias monitoring using the CDC's LSP has remained within a 5.0% limit.</p><p><strong>Conclusions: </strong>KNHANES triglyceride values in 2022 (non-blanking) were substantially higher than those from 2005-2021 (blanking). Conversion equations helped effectively adjust 2005-2021 data. Researchers should consider adjusting the KNHANES triglyceride data based on their study characteristics.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"291-299"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996691/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Establishment of a Multilocus Sequence Typing Scheme for Pasteurella canis Using Isolates from Infected Humans and Diseased Companion Animals. 利用感染人类和患病伴侣动物分离物建立犬巴氏杆菌多位点序列分型方案。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-05-01 Epub Date: 2025-03-20 DOI: 10.3343/alm.2024.0501
Haruno Yoshida, Jae-Seok Kim, Takahiro Maeda, Mieko Goto, Yuzo Tsuyuki, Kenichi Shizuno, Takashi Takahashi
{"title":"Establishment of a Multilocus Sequence Typing Scheme for <i>Pasteurella canis</i> Using Isolates from Infected Humans and Diseased Companion Animals.","authors":"Haruno Yoshida, Jae-Seok Kim, Takahiro Maeda, Mieko Goto, Yuzo Tsuyuki, Kenichi Shizuno, Takashi Takahashi","doi":"10.3343/alm.2024.0501","DOIUrl":"10.3343/alm.2024.0501","url":null,"abstract":"<p><strong>Background: </strong>Multilocus sequence typing (MLST) is well-established for <i>Pasteurella multocida</i> but remains undeveloped for <i>Pasteurella canis</i>. We established MLST for <i>P. canis</i> using isolates from humans and companion animals in Japan and Korea to gain insights into its population biology.</p><p><strong>Methods: </strong>We analyzed 39 and 22 isolates from companion animals and humans, respectively. We selected seven housekeeping genes-<i>adk, aroA, deoD, gdhA, g6pd, mdh</i>, and <i>pgi</i>-used in <i>P. multocida</i> MLST. Primer pairs for PCR amplification and sequencing were designed based on conserved sites in 10 whole-genome sequences. We determined fragment sequences, variable sites, allelic profiles, and sequence types (STs) of each isolate. A phylogenetic tree of concatenated sequences was constructed using the goeBURST algorithm to identify STs and clonal complexes (CCs). <i>ompA</i>, encoding outer membrane protein A, was genotyped for molecular characterization.</p><p><strong>Results: </strong>The sequenced fragment lengths and allele numbers of the seven genes were 424, 451, 483, 439, 429, 419, and 440 bp and 16, 13, 15, 18, 22, 19, and 18, respectively. ST1-ST47, including CC2, CC10, CC18, CC31, and CC33, were diversely distributed among the isolates from different hosts/countries. In the seven-gene phylogenetic tree, apart from <i>P. multocida</i>, all isolates clustered together. goeBURST diagrams revealed diverse ST distributions among different hosts (animal/human) and countries (Japan/Korea/ others). We found clusters 1-4 in <i>ompA</i> genotyping, indicating that MLST discrimination is higher than <i>ompA</i> typing discrimination.</p><p><strong>Conclusions: </strong>We established MLST for <i>P. canis</i> isolates from humans and companion animals in Japan and Korea, thereby providing a robust tool for population biology studies.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"300-311"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143662202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Are Your Laboratory Data Reproducible? The Critical Role of Imprecision from Replicate Measurements to Clinical Decision-making. 您的实验室数据具有可重复性吗?从重复测量到临床决策,不精确性的关键作用。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-05-01 Epub Date: 2025-03-21 DOI: 10.3343/alm.2024.0569
Abdurrahman Coskun
{"title":"Are Your Laboratory Data Reproducible? The Critical Role of Imprecision from Replicate Measurements to Clinical Decision-making.","authors":"Abdurrahman Coskun","doi":"10.3343/alm.2024.0569","DOIUrl":"10.3343/alm.2024.0569","url":null,"abstract":"<p><p>Measurement results of biological samples are not perfect and vary because of numerous factors related to the biological samples themselves and the measurement procedures used to analyze them. The imprecision in patients' laboratory data arising from the measurement procedure, known as analytical variation, depends on the conditions under which the data are collected. Additionally, the sample type and sampling time significantly affect patients' laboratory results, particularly in serial measurements using samples collected at different time points. For accurate interpretation of patients' laboratory data, imprecision-both its analytical and biological components-should be properly evaluated and incorporated into data management. With advancements in measurement technologies, analytical imprecision can be minimized to an insignificant level compared to biological imprecision, which is inherent to all biomolecules because of the dynamic nature of metabolism. This review addresses: (i) the theoretical background of variation, (ii) the statistical and metrological evaluation of measurement variation, (iii) the assessment of variation under different conditions in medical laboratories, (iv) the impact of measurement variation on clinical decisions, (v) the influence of biases on measurement variation, and (vi) the variability of analytes in human metabolism. Collectively, both analytical and biological imprecision are inseparable aspects of all measurements in biological samples, with biological imprecision serving as the foundation of personalized laboratory medicine.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"259-271"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143668928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Agreement Evaluation in Statistical Analyses: Misconceptions and Key Features. 统计分析中的一致性评估:误解和关键特征。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-05-01 Epub Date: 2025-03-17 DOI: 10.3343/alm.2024.0685
Seungho Lee
{"title":"Agreement Evaluation in Statistical Analyses: Misconceptions and Key Features.","authors":"Seungho Lee","doi":"10.3343/alm.2024.0685","DOIUrl":"10.3343/alm.2024.0685","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"276-278"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities. 临床实验室的药物基因组学检测:历史进展和未来机遇。
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-05-01 Epub Date: 2025-04-02 DOI: 10.3343/alm.2024.0652
Ann M Moyer, John L Black
{"title":"Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities.","authors":"Ann M Moyer, John L Black","doi":"10.3343/alm.2024.0652","DOIUrl":"10.3343/alm.2024.0652","url":null,"abstract":"<p><p>Pharmacogenomics is a rapidly evolving field with a strong foundation in basic science dating back to 1960. Pharmacogenomic findings have been translated into clinical care through collaborative efforts of clinical practitioners, pharmacists, clinical laboratories, and research groups. The methods used have transitioned from targeted genotyping of relatively few variants in individual genes to multiplexed multi-gene panels, and sequencingbased methods are likely on the horizon; however, no system exists for classifying and reporting rare variants identified via sequencing-based approaches. Laboratory testing in pharmacogenomics is complex for several genes, including cytochrome P450 2D6 (<i>CYP2D6</i>), <i>HLA-A</i>, and <i>HLA-B</i> , owing to a high degree of polymorphisms, homology with other genes, and copy-number variation. These loci require specialized methods and familiarity with each gene, which may persist during the transition to next-generation sequencing. Increasing implementation across laboratories and clinical facilities has required cooperative efforts to develop standard testing targets, nomenclature, and reporting practices and guidelines for applying the results clinically. Beyond standardization, harmonization between pharmacogenomics and the broader field of genomic medicine may be essential for facilitating further adoption and realizing the full potential of personalized medicine. In this review, we describe the evolution of clinical laboratory testing for pharmacogenomics, including standardization efforts and the anticipated transition from targeted genotyping to sequencing-based pharmacogenomics. We speculate on potential upcoming developments, including pharmacoepigenetics, improved understanding of the impact of non-coding variants, use of large-scale functional genomics to characterize rare variants, and a renewed interest in polygenic risk or combinatorial approaches, which will drive the progression of the field.</p>","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"247-258"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification of IGH::DUX4 Rearrangements Using RNA-sequencing in a Patient with ALL: A Case Report. 利用rna测序鉴定ALL患者的IGH::DUX4重排:一例报告
IF 4 2区 医学
Annals of Laboratory Medicine Pub Date : 2025-05-01 Epub Date: 2025-04-03 DOI: 10.3343/alm.2024.0622
Seoyoung Lim, Yu Jeong Choi, Eunju Yeom, Won Kee Ahn, Seung-Tae Lee, Jong Rak Choi, Seungmin Hahn, Saeam Shin
{"title":"Identification of <i>IGH::DUX4</i> Rearrangements Using RNA-sequencing in a Patient with ALL: A Case Report.","authors":"Seoyoung Lim, Yu Jeong Choi, Eunju Yeom, Won Kee Ahn, Seung-Tae Lee, Jong Rak Choi, Seungmin Hahn, Saeam Shin","doi":"10.3343/alm.2024.0622","DOIUrl":"10.3343/alm.2024.0622","url":null,"abstract":"","PeriodicalId":8421,"journal":{"name":"Annals of Laboratory Medicine","volume":" ","pages":"339-342"},"PeriodicalIF":4.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11996694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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