Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this...Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this condition.To investigate the?effectiveness?of?mean?corpuscular?volume?(MCV)and mean corpuscular hemoglobin(MCH)for screeningβ-thalassemia,retrospective data were analyzed for 6,779β-thalassemia carriers subjected to genetic testing following thalassemia screening in Guangdong province between January 2018 and December 2019.展开更多
Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia.To investigate molecular characteristics ofα-andβ-thalassemia among young individuals of marriageable age in Guangdong P...Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia.To investigate molecular characteristics ofα-andβ-thalassemia among young individuals of marriageable age in Guangdong Province,24,788 subjects with suspected thalassemia were genetically tested forα-andβ-thalassemia by GapPCR and reverse dot blot during 2018–2019.For suspected rare thalassemia cases,DNA sequencing was performed to identify rare and unknown thalassemia gene mutations.A total of 14,346 thalassemia carriers were detected,including 7,556 cases ofα-thalassemia with 25 genotypes and 8α-gene mutations identified,5,860 cases ofβ-thalassemia with 18 genotypes and 18β-gene mutations identified,and 930 cases of compoundα/β-thalassemia.Among them,the frequency of--SEA deletion was the highest inα-thalassemia(66.01%),followed by-α3.7(17.98%)and-α.24(8.22%),and the frequency of CD41-42(-TCTT)mutation was the highest inβ-thalassemia(38.38%),followed by IVS-II-654(C>T)(25.67%),-28(A>G)(15.76%),and CD17(10.01%).In addition,5 rare mutations(--THAI and HKαα,CD113,-90,and CD56)were found in the study population.Our results revealed molecular epidemiological background ofα-andβ-thalassemia in Guangdong Province,which can support optimization of thalassemia prevention and control strategies.We demonstrated that thalassemia is heterogeneous with significant geographical differences and population specificity.展开更多
影像基因组学认为神经影像与基因之间存在着一定程度的相关性,利用遗传变异与影像数据进行疾病分析愈发受研究人员重视。在实践中,临床医生拥有的数据规模往往较小,但仍然希望使用深度学习来解决现实问题。考虑到不断扩大的数据规模与...影像基因组学认为神经影像与基因之间存在着一定程度的相关性,利用遗传变异与影像数据进行疾病分析愈发受研究人员重视。在实践中,临床医生拥有的数据规模往往较小,但仍然希望使用深度学习来解决现实问题。考虑到不断扩大的数据规模与昂贵的标注成本,构建能够利用多模态数据的无监督学习方法十分必要。为了满足上述需求,提出了一种基于影像与基因多模态表格数据对比学习的表征学习方法(multimodal tabular data with contrastive learning,MTCL),该模型利用了静息态功能磁共振成像(rs-fMRI)和单核苷酸多态性(single nucleotide polymorphisms,SNP)数据,无需数据的任何标签信息。为了增强可解释性,模型先通过特征提取模块将rs-fMRI和SNP数据转换为表格类型结构,再通过多模态表格数据对比学习模块对多模态数据进行融合,并获得融合后的数据表征。在重度抑郁症(major depression disorder,MDD)数据上,文中提出的方法能够有效提升MDD诊断性能。此外,MTCL方法结合了模型归因方法挖掘与MDD相关的影像和遗传生物标记物,提高了模型的可解释性,有助于研究人员对疾病发病机制的理解。展开更多
基金the Data quality evaluation study of the national free preconception eugenics health screening program[No.C2018033].
文摘Beta(β)-thalassemia is one of the most common hemoglobinopathies worldwide,creating major public health problems and social burdens in many regions.Screening forβ-thalassemia carriers is crucial for controlling this condition.To investigate the?effectiveness?of?mean?corpuscular?volume?(MCV)and mean corpuscular hemoglobin(MCH)for screeningβ-thalassemia,retrospective data were analyzed for 6,779β-thalassemia carriers subjected to genetic testing following thalassemia screening in Guangdong province between January 2018 and December 2019.
基金the Data quality evaluation study of the national free preconception eugenics health screening program[No.C2018033]。
文摘Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia.To investigate molecular characteristics ofα-andβ-thalassemia among young individuals of marriageable age in Guangdong Province,24,788 subjects with suspected thalassemia were genetically tested forα-andβ-thalassemia by GapPCR and reverse dot blot during 2018–2019.For suspected rare thalassemia cases,DNA sequencing was performed to identify rare and unknown thalassemia gene mutations.A total of 14,346 thalassemia carriers were detected,including 7,556 cases ofα-thalassemia with 25 genotypes and 8α-gene mutations identified,5,860 cases ofβ-thalassemia with 18 genotypes and 18β-gene mutations identified,and 930 cases of compoundα/β-thalassemia.Among them,the frequency of--SEA deletion was the highest inα-thalassemia(66.01%),followed by-α3.7(17.98%)and-α.24(8.22%),and the frequency of CD41-42(-TCTT)mutation was the highest inβ-thalassemia(38.38%),followed by IVS-II-654(C>T)(25.67%),-28(A>G)(15.76%),and CD17(10.01%).In addition,5 rare mutations(--THAI and HKαα,CD113,-90,and CD56)were found in the study population.Our results revealed molecular epidemiological background ofα-andβ-thalassemia in Guangdong Province,which can support optimization of thalassemia prevention and control strategies.We demonstrated that thalassemia is heterogeneous with significant geographical differences and population specificity.
文摘影像基因组学认为神经影像与基因之间存在着一定程度的相关性,利用遗传变异与影像数据进行疾病分析愈发受研究人员重视。在实践中,临床医生拥有的数据规模往往较小,但仍然希望使用深度学习来解决现实问题。考虑到不断扩大的数据规模与昂贵的标注成本,构建能够利用多模态数据的无监督学习方法十分必要。为了满足上述需求,提出了一种基于影像与基因多模态表格数据对比学习的表征学习方法(multimodal tabular data with contrastive learning,MTCL),该模型利用了静息态功能磁共振成像(rs-fMRI)和单核苷酸多态性(single nucleotide polymorphisms,SNP)数据,无需数据的任何标签信息。为了增强可解释性,模型先通过特征提取模块将rs-fMRI和SNP数据转换为表格类型结构,再通过多模态表格数据对比学习模块对多模态数据进行融合,并获得融合后的数据表征。在重度抑郁症(major depression disorder,MDD)数据上,文中提出的方法能够有效提升MDD诊断性能。此外,MTCL方法结合了模型归因方法挖掘与MDD相关的影像和遗传生物标记物,提高了模型的可解释性,有助于研究人员对疾病发病机制的理解。
