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Bioinformatics (Oxford, England)
|
June 30, 2016
Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes
Jacob Shujui Hsu, Johnny S H Kwan, Zhicheng Pan, et al.
Translational Neurodegeneration
|
October 20, 2017
The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, et al.
Plos One
|
February 6, 2025
Comparisons of performances of structural variants detection algorithms in solitary or combination strategy
De-Min Duan, Chinyi Cheng, Yu-Shu Huang, et al.
Psychological Medicine
|
February 7, 2019
A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder
Yamin Zhang, Mingli Li, Qiang Wang, et al.
Molecular Genetics & Genomic Medicine
|
November 4, 2022
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing
Chen-Yu Lee, Ming-Yu Lo, You-Mei Chen, et al.
Human Genomics
|
June 20, 2025
Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools
Yu-An Chen, Tzu-Hang Yuan, Jia-Hsin Huang, et al.
Nucleic Acids Research
|
January 25, 2017
Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework
Miaoxin Li, Jiang Li, Mulin Jun Li, et al.
Human Genomics
|
February 15, 2026
From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration
Yu-Shu Huang, Chien-Yu Lin, Yu-An Chen, et al.
The Journal of Molecular Diagnostics : JMD
|
June 15, 2025
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings
Hsin-Fu Lin, Pei-Miao Chien, Chinyi Cheng, et al.
Frontiers in Immunology
|
September 26, 2022
Profiling genes encoding the adaptive immune receptor repertoire with gAIRR Suite
Mao-Jan Lin, Yu-Chun Lin, Nae-Chyun Chen, et al.
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Search research articles
Search
Showing results (1-10 of 28) with videos related to
Sort By:
Page
of 3
Bioinformatics (Oxford, England)
|
June 30, 2016
Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes
Jacob Shujui Hsu, Johnny S H Kwan, Zhicheng Pan, et al.
Translational Neurodegeneration
|
October 20, 2017
The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, et al.
Plos One
|
February 6, 2025
Comparisons of performances of structural variants detection algorithms in solitary or combination strategy
De-Min Duan, Chinyi Cheng, Yu-Shu Huang, et al.
Psychological Medicine
|
February 7, 2019
A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder
Yamin Zhang, Mingli Li, Qiang Wang, et al.
Molecular Genetics & Genomic Medicine
|
November 4, 2022
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing
Chen-Yu Lee, Ming-Yu Lo, You-Mei Chen, et al.
Human Genomics
|
June 20, 2025
Toward streamline variant classification: discrepancies in variant nomenclature and syntax for ClinVar pathogenic variants across annotation tools
Yu-An Chen, Tzu-Hang Yuan, Jia-Hsin Huang, et al.
Nucleic Acids Research
|
January 25, 2017
Robust and rapid algorithms facilitate large-scale whole genome sequencing downstream analysis in an integrative framework
Miaoxin Li, Jiang Li, Mulin Jun Li, et al.
Human Genomics
|
February 15, 2026
From enrichment to interpretation: PS4-driven reclassification in Taiwanese inherited retinal degeneration
Yu-Shu Huang, Chien-Yu Lin, Yu-An Chen, et al.
The Journal of Molecular Diagnostics : JMD
|
June 15, 2025
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings
Hsin-Fu Lin, Pei-Miao Chien, Chinyi Cheng, et al.
Frontiers in Immunology
|
September 26, 2022
Profiling genes encoding the adaptive immune receptor repertoire with gAIRR Suite
Mao-Jan Lin, Yu-Chun Lin, Nae-Chyun Chen, et al.
Page
of 3