Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.
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| Title: | Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches. |
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| Authors: | Pang C; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Chui MM; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Tang W; Hong Kong Genome Institute, Hong Kong SAR, China., Kwong AK; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Leung HYC; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Fan SS; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Kwok AW; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Chan GC; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China., Luk HM; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China., Wong RM; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China., Yang W; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Lo IF; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China., Fung CW; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China., Tung JY; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China., Liu AP; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China., Yeung KS; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China., Wong SS; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China., Mak CC; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China., Chung BH; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Hong Kong Genome Institute, Hong Kong SAR, China; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China. Electronic address: bhychung@hku.hk. |
| Source: | EBioMedicine [EBioMedicine] 2026 Jun; Vol. 128, pp. 106313. Date of Electronic Publication: 2026 May 28. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42208150 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Pang+C%22">Pang C</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chui+MM%22">Chui MM</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Tang+W%22">Tang W</searchLink>; Hong Kong Genome Institute, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Kwong+AK%22">Kwong AK</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Leung+HYC%22">Leung HYC</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Fan+SS%22">Fan SS</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Kwok+AW%22">Kwok AW</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chan+GC%22">Chan GC</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Luk+HM%22">Luk HM</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Wong+RM%22">Wong RM</searchLink>; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Yang+W%22">Yang W</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Lo+IF%22">Lo IF</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Fung+CW%22">Fung CW</searchLink>; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Tung+JY%22">Tung JY</searchLink>; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Liu+AP%22">Liu AP</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Yeung+KS%22">Yeung KS</searchLink>; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Wong+SS%22">Wong SS</searchLink>; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Mak+CC%22">Mak CC</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.<br /><searchLink fieldCode="AU" term="%22Chung+BH%22">Chung BH</searchLink>; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China; Hong Kong Genome Institute, Hong Kong SAR, China; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Hong Kong SAR, China. Electronic address: bhychung@hku.hk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101647039%22">EBioMedicine</searchLink> [EBioMedicine] 2026 Jun; Vol. 128, pp. 106313. <i>Date of Electronic Publication: </i>2026 May 28. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+B%2EV%22">Elsevier B.V </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101647039 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2352-3964 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2223523964%22">23523964 </searchLink><i>NLM ISO Abbreviation: </i>EBioMedicine <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42208150 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ebiom.2026.106313 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 106313 Titles: – TitleFull: Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pang C – PersonEntity: Name: NameFull: Chui MM – PersonEntity: Name: NameFull: Tang W – PersonEntity: Name: NameFull: Kwong AK – PersonEntity: Name: NameFull: Leung HYC – PersonEntity: Name: NameFull: Fan SS – PersonEntity: Name: NameFull: Kwok AW – PersonEntity: Name: NameFull: Chan GC – PersonEntity: Name: NameFull: Luk HM – PersonEntity: Name: NameFull: Wong RM – PersonEntity: Name: NameFull: Yang W – PersonEntity: Name: NameFull: Lo IF – PersonEntity: Name: NameFull: Fung CW – PersonEntity: Name: NameFull: Tung JY – PersonEntity: Name: NameFull: Liu AP – PersonEntity: Name: NameFull: Yeung KS – PersonEntity: Name: NameFull: Wong SS – PersonEntity: Name: NameFull: Mak CC – PersonEntity: Name: NameFull: Chung BH IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2026 Jun Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 2352-3964 Numbering: – Type: volume Value: 128 Titles: – TitleFull: EBioMedicine Type: main |
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