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Genome-wide association studies: inherent limitations and future challenges

Yan Du, Jiaxin Xie, Wenjun Chang, Yifang Han, Guangwen Cao

Frontiers of Medicine 2012, Volume 6, Issue 4,   Pages 444-450 doi: 10.1007/s11684-012-0225-3

Abstract:

Genome-wide association studies (GWAS) have achieved great success in identifying genetic variantsrelated to complex human diseases such as cancer and have provided valuable insights into their geneticAlong with pharmacogenomics, the success of GWAS in identifying genetic risk factors and genetic differences

Keywords： genome-wide association studies (GWAS)     genetic variant     cancer     limitation     challenge    

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A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

Frontiers of Medicine 2023, Volume 17, Issue 2,   Pages 330-338 doi: 10.1007/s11684-022-0933-2

Abstract: We found a novel heterozygous missense variant (c.134G>C:p.G45A) for Clouston syndrome.Our data reveal that a novel variant (c.134G>C:p.G45A) plays a likely pathogenic role in this pedigreeand highlight that genetic testing is necessary for the diagnosis of Clouston syndrome.

Keywords： Clouston syndrome     whole exome sequencing     GJB6 gene     novel variant     unique phenotype    

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Potential unreliability of ALK variant allele frequency in the efficacy prediction of targeted therapy

Frontiers of Medicine 2023, Volume 17, Issue 3,   Pages 493-502 doi: 10.1007/s11684-022-0946-x

Abstract: In this work, we investigated whether the variant allele frequencies (VAFs) of ALK fusions can

Keywords： fusion     next-generation sequencing     fluorescence in situ hybridization     immunohistochemistry     variant    

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Effectiveness of inactivated COVID-19 vaccine against the severity of Omicron variant

Frontiers of Medicine 2023, Volume 17, Issue 3,   Pages 576-580 doi: 10.1007/s11684-023-0991-0

Abstract: Effectiveness of inactivated COVID-19 vaccine against the severity of Omicron variant

Keywords： variant    

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Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in

Frontiers of Medicine 2022, Volume 16, Issue 5,   Pages 808-814 doi: 10.1007/s11684-021-0878-x

Abstract: Here, we investigated five Chinese families with EB, and eight variants including a novel nonsense variant(c.47G>A, p.W16*) in LAMA3, a known recurrent variant (c.74C>T, p.P25L) in KRT5, 2 novelNotably, this study identified a nonsense variant in LAMA3 that causes EB within the Chinese populationand revealed that this variant resulted in a reduction in LAMA3 mRNA and protein expression levels

Keywords： epidermolysis bullosa     LAMA3     COL7A1     KRT5     Chinese families    

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Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

Frontiers of Medicine 2023, Volume 17, Issue 4,   Pages 768-780 doi: 10.1007/s11684-023-0982-1

Abstract: By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two

Keywords： machine learning methods     hypertrophic cardiomyopathy     genetic risk    

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Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

Dong Wang, Min Tian, Guanglin Cui, Dao Wen Wang

Frontiers of Medicine 2018, Volume 12, Issue 3,   Pages 319-323 doi: 10.1007/s11684-017-0553-4

Abstract: protein C activity resulting from a small insertion mutation c.848_849insGATGT in and a short deletion variantdeficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic

Keywords： antithrombin deficiency     protein C activity     mutation     variant     venous thromboembolism     anticoagulants    

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Exergy and exergoeconomic analyses for integration of aromatics separation with aromatics upgrading

Frontiers of Chemical Science and Engineering 2023, Volume 17, Issue 2,   Pages 183-193 doi: 10.1007/s11705-022-2192-9

Abstract: Methanol to aromatics produces multiple products, resulting in a limited selectivity of xylene. Aromatics upgrading is an effective way to produce more valuable xylene product, and different feed ratios generate discrepant product distributions. This work integrates the aromatics separation with toluene disproportionation, transalkylation of toluene and trimethylbenzene, and isomerization of xylene and trimethylbenzene. Exergy and exergoeconomic analyses are conducted to give insights in the splitting ratios of benzene, toluene and heavy aromatics for aromatics upgrading. First, a detailed simulation model is developed in Aspen HYSYS. Then, 300 splitting ratio sets of benzene and toluene for conversion are studied to investigate the process performances. The results indicate that there are different preferences for the splitting ratios of benzene and toluene in terms of exergy and exergoeconomic performances. The process generates lower total exergy destruction when the splitting ratio of toluene varies between 0.07 and 0.18, and that of benzene fluctuates between 0.55 and 0.6. Nevertheless, the process presents lower total product unit cost with the splitting ratio of toluene less than 0.18 and that of benzene fluctuating between 0.44 and 0.89. Besides, it is found that distillation is the biggest contributor to the total exergy destruction, accounting for 94.97%.

Keywords： aromatics separation and upgrading     variant splitting ratios     total exergy destruction     total product    

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Research and development of a novel subunit vaccine for the currently circulating pseudorabies virus variant

Yuzhou WANG,Tongyan WANG,He YAN,Fanli YANG,Linghua GUO,Qingyuan YANG,Xule HU,Feifei TAN,Yan XIAO,Xiangdong LI,Kegong TIAN

Frontiers of Agricultural Science and Engineering 2015, Volume 2, Issue 3,   Pages 216-222 doi: 10.15302/J-FASE-2015072

Abstract: Hence, this novel gB-based vaccine could be applied as an effective subunit vaccine to control PRV variant

Keywords： pseudorabies virus     glycoprotein B protein     subunit vaccine    

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Interplay between diet and genetic susceptibility in obesity and related traits

Tiange Wang, Min Xu, Yufang Bi, Guang Ning

Frontiers of Medicine 2018, Volume 12, Issue 6,   Pages 601-607 doi: 10.1007/s11684-018-0648-6

Abstract: Longitudinal studies and randomized intervention trials have shown that genetic susceptibility to obesity

Keywords： diet     genetic susceptibility     obesity     interaction    

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Optimal design of steel skeletal structures using the enhanced genetic algorithm methodology

Tugrul TALASLIOGLU

Frontiers of Structural and Civil Engineering 2019, Volume 13, Issue 4,   Pages 863-889 doi: 10.1007/s11709-019-0523-9

Abstract: For this purpose, the enhanced genetic algorithm methodology named EGAwMP is utilized as an optimizationThe evolutionary search mechanism of EGAwMP is constituted on the basis of generational genetic algorithminto sub-populations and using of a radial basis neural network for dynamically adjustment of EGAwMP’s genetic

Keywords： design optimization     genetic algorithm     multiple populations     neural network    

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Research progress on genetic improvement of

Chuanping YANG

Frontiers of Agricultural Science and Engineering 2017, Volume 4, Issue 4,   Pages 391-401 doi: 10.15302/J-FASE-2017183

Abstract: Over the past 30 years, effective progress has been made in genetic improvement and molecular breedingmolecular markers were developed and the high density genetic map constructed.All this research has provided a model and data for the foundation of forest genetic improvement and

Keywords： Betula platyphylla     genetic improvement     molecular breeding     seed orchard    

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Genomics and genetic breeding in aquatic animals: progress and prospects

Wenteng XU, Songlin CHEN

Frontiers of Agricultural Science and Engineering 2017, Volume 4, Issue 3,   Pages 305-318 doi: 10.15302/J-FASE-2017154

Abstract: focuses on dissection of genome structure and function to provide a molecular basis for understanding the geneticprogress of aquatic animals in nine aspects, including WGS and fine mapping, construction of high density genetic

Keywords： aquaculture     genomics     genetic breeding     progress    

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Search-and-replace editing of genetic information

Yao LIU, Xingxu HUANG, Xiaolong WANG

Frontiers of Agricultural Science and Engineering 2020, Volume 7, Issue 2,   Pages 231-232 doi: 10.15302/J-FASE-2020322

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Age-related trends in genetic parameters for wood properties in

Chao SUN, Meng LAI, Shougong ZHANG, Xiaomei SUN

Frontiers of Agricultural Science and Engineering 2017, Volume 4, Issue 4,   Pages 482-492 doi: 10.15302/J-FASE-2017184

Abstract: With the aim of performing efficient early selection for wood properties, we investigated genetic variationAfter the age of 6, genetic correlations were generally higher than phenotypic correlations.

Keywords： early selection     genetic variation     wood properties     SilviScan     Larix kaempferi    

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Title Author Date Type Operation

Genome-wide association studies: inherent limitations and future challenges

Yan Du, Jiaxin Xie, Wenjun Chang, Yifang Han, Guangwen Cao

Journal Article

A novel variant in the gene in a large Chinese family with a unique phenotype of Clouston syndrome

Journal Article

Potential unreliability of ALK variant allele frequency in the efficacy prediction of targeted therapy

Journal Article

Effectiveness of inactivated COVID-19 vaccine against the severity of Omicron variant

Journal Article

Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in

Journal Article

Machine learning modeling identifies hypertrophic cardiomyopathy subtypes with genetic signature

Journal Article

Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

Dong Wang, Min Tian, Guanglin Cui, Dao Wen Wang

Journal Article

Exergy and exergoeconomic analyses for integration of aromatics separation with aromatics upgrading

Journal Article

Research and development of a novel subunit vaccine for the currently circulating pseudorabies virus variant

Yuzhou WANG,Tongyan WANG,He YAN,Fanli YANG,Linghua GUO,Qingyuan YANG,Xule HU,Feifei TAN,Yan XIAO,Xiangdong LI,Kegong TIAN

Journal Article

Interplay between diet and genetic susceptibility in obesity and related traits

Tiange Wang, Min Xu, Yufang Bi, Guang Ning

Journal Article

Optimal design of steel skeletal structures using the enhanced genetic algorithm methodology

Tugrul TALASLIOGLU

Journal Article

Research progress on genetic improvement of

Chuanping YANG

Journal Article

Genomics and genetic breeding in aquatic animals: progress and prospects

Wenteng XU, Songlin CHEN

Journal Article

Search-and-replace editing of genetic information

Yao LIU, Xingxu HUANG, Xiaolong WANG

Journal Article

Age-related trends in genetic parameters for wood properties in

Chao SUN, Meng LAI, Shougong ZHANG, Xiaomei SUN

Journal Article