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Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability:An exome-wide sequencing study
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作者 Yimeng Qiao Nan Lv +7 位作者 Tongchuan Li Ye Cheng Yunqian Li Jiqiang Dong Meimei Han Yang Gu Qing Shang Qinghe Xing 《Genes & Diseases》 2025年第4期15-18,共4页
Global developmental delay/intellectual disability(GDD/ID)with a prevalence of 1%e3%represents one of the biggest medical and social challenges in our society.^(1)Genetic factors are the main causes of GDD/ID and earl... Global developmental delay/intellectual disability(GDD/ID)with a prevalence of 1%e3%represents one of the biggest medical and social challenges in our society.^(1)Genetic factors are the main causes of GDD/ID and early diagnosis is crucial to improving the prognosis of GDD/ID children.^(2)Chromosomal microarray analysis,as a first-tier clinical test,^(3)remains limited because of the insufficient to detect small variations while whole exome sequencing(WES)can detect both single-nucleotide variants(SNVs)and copy-number variants(CNVs),effectively improving the diagnostic yield of GDD/ID. 展开更多
关键词 whole exome sequencing wes can genetic factors early diagnosis global developmental delay exome wide sequencing intellectual disability microarray analysisas
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Epidemiological and phylogenetic characteristics of human metapneumovirus in Beijing,China,2014–2024
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作者 Aihua Li Cheng Gong +12 位作者 Liang Wang Yuling Han Lu Kang Geng Hu Jian Cao Maozhong Li Xuejiao Guan Ming Luo Lei Yu Yuchuan Li Fang Huang George F.Gao Quanyi Wang 《Signal Transduction and Targeted Therapy》 2025年第10期5514-5523,共10页
In November 2024,there was an unusual surge in human metapneumovirus(hMPV)infection cases in Beijing.We performed an epidemiological investigation among cases with acute respiratory tract infection(ARTI).We enrolled A... In November 2024,there was an unusual surge in human metapneumovirus(hMPV)infection cases in Beijing.We performed an epidemiological investigation among cases with acute respiratory tract infection(ARTI).We enrolled ARTI cases from 35 sentinel hospitals,collected samples and medical records,conducted comprehensive pathogen testing,sequenced target genes or whole genomes,and performed phylogenetic analysis.A total of 79,793 cases were included in this study from 2014 to 2024.The hMPV epidemic exhibited typical seasonality from December to April of the following year,with an overall positivity rate of hMPV of 1.6%.The positivity rate of hMPV was highest in the 0–4 year age group(3.4%)and remained relatively high(1.2%)among populations over 60 years of age.Genotypes A and B were cocirculated,with predominant genotypes alternating every two years.We identified two variants of A2c with 180 or 111 nucleotide duplications in the G gene since 2016,and the A2c_(111nt-dup)has been predominant(56.9%)over the parent A2c since 2018.HMPV infection experienced an unusual surge beginning in November 2024 and peaked in December(9.5%).Subgenotype B2(98.3%)returned to the predominant position instead of the A2c_(111nt-dup)and seemed to be associated with milder illness.Twenty hMPV isolates collected in 2024 were identified as known subgenotypes(A2c and B2)via whole-genome analyses.In conclusion,hMPV exhibited a typical seasonality in Beijing,with the predominant genotypes alternating every two years.Its unusual surge in November 2024 was attributed to the reoccurrence of hMPV B2 rather than a novel variant. 展开更多
关键词 whole genomesand EPIDEMIOLOGY acute respiratory tract infection arti we medical recordsconducted human metapneumovirus hmpv infection epidemiological investigation phylogenetic analysisa pathogen testingsequenced target genes
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Engineering Fronts 2024 announced engineering fronts in the fields of Energy and Electrical Science and Technology
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作者 Liang Yin Ruiqin Liu Yonglin Ju 《Frontiers in Energy》 2025年第1期4-7,共4页
1 Introduction The Chinese Academy of Engineering(CAE)has published the annual reports of Engineering Fronts 2024[1-3].A multi round interaction method,involving iterative selection and judgment between experts and da... 1 Introduction The Chinese Academy of Engineering(CAE)has published the annual reports of Engineering Fronts 2024[1-3].A multi round interaction method,involving iterative selection and judgment between experts and data,was adopted.Through the deep integration of expert review and data analysis,a total of 92 engineering research fronts and 92 engineering development fronts were selected.Among them,3 engineering research fronts and 3 engineering development fronts were identified in the field of Energy and Electrical Science and Technology. 展开更多
关键词 iterative selection judgment engineering fronts engineering development fronts multi round interaction methodinvolving engineering research fronts energy ele expert review data analysisa
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