View in EDS HTML Full Text PDF Full Text

A novel phenotype-guided genome analysis pipeline for variant discovery.

Saved in:
Bibliographic Details
Title: A novel phenotype-guided genome analysis pipeline for variant discovery.
Authors: Ahmed L; University of Toronto, Toronto, ON, Canada.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada., Tavares E; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada., Li JM; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada., Ahmed K; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada., Mehta M; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada., Eileen C; University of Toronto, Toronto, ON, Canada.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada., Ah-Sen G; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada., Osman R; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada., Green-Sanderson K; University of Toronto, Toronto, ON, Canada.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada., Dvaladze A; University of Toronto, Toronto, ON, Canada.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada., Nimmo G; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Fred A Litwin Family Centre for Genetic Medicine, The University Health Network, Toronto, ON, Canada., Deshwar AR; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Paton T; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Casallo G; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Marshall CR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Heon E; University of Toronto, Toronto, ON, Canada.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada., Vincent A; University of Toronto, Toronto, ON, Canada. ajoy.vincent@sickkids.ca.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada. ajoy.vincent@sickkids.ca.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada. ajoy.vincent@sickkids.ca.
Source: NPJ genomic medicine [NPJ Genom Med] 2026 Mar 28; Vol. 11 (1). Date of Electronic Publication: 2026 Mar 28.
Publication Type: Journal Article
Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 41904215
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: A novel phenotype-guided genome analysis pipeline for variant discovery.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Ahmed+L%22">Ahmed L</searchLink>; University of Toronto, Toronto, ON, Canada.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Tavares+E%22">Tavares E</searchLink>; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Li+JM%22">Li JM</searchLink>; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Ahmed+K%22">Ahmed K</searchLink>; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Mehta+M%22">Mehta M</searchLink>; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Eileen+C%22">Eileen C</searchLink>; University of Toronto, Toronto, ON, Canada.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Ah-Sen+G%22">Ah-Sen G</searchLink>; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Osman+R%22">Osman R</searchLink>; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Green-Sanderson+K%22">Green-Sanderson K</searchLink>; University of Toronto, Toronto, ON, Canada.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Dvaladze+A%22">Dvaladze A</searchLink>; University of Toronto, Toronto, ON, Canada.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Nimmo+G%22">Nimmo G</searchLink>; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Fred A Litwin Family Centre for Genetic Medicine, The University Health Network, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Deshwar+AR%22">Deshwar AR</searchLink>; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Paton+T%22">Paton T</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Casallo+G%22">Casallo G</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Marshall+CR%22">Marshall CR</searchLink>; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Division of Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Heon+E%22">Heon E</searchLink>; University of Toronto, Toronto, ON, Canada.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Vincent+A%22">Vincent A</searchLink>; University of Toronto, Toronto, ON, Canada. ajoy.vincent@sickkids.ca.; Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada. ajoy.vincent@sickkids.ca.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada. ajoy.vincent@sickkids.ca.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22101685193%22">NPJ genomic medicine</searchLink> [NPJ Genom Med] 2026 Mar 28; Vol. 11 (1). <i>Date of Electronic Publication: </i>2026 Mar 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="%22Springer+Nature+in+partnership+with+the+Center+of+Excellence+in+Genomic+Medicine+Research+at+King+Abdulaziz+University%22">Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101685193 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2056-7944 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220567944%22">20567944 </searchLink><i>NLM ISO Abbreviation: </i>NPJ Genom Med <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41904215
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1038/s41525-026-00557-0
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: A novel phenotype-guided genome analysis pipeline for variant discovery.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Ahmed L
      – PersonEntity:
          Name:
            NameFull: Tavares E
      – PersonEntity:
          Name:
            NameFull: Li JM
      – PersonEntity:
          Name:
            NameFull: Ahmed K
      – PersonEntity:
          Name:
            NameFull: Mehta M
      – PersonEntity:
          Name:
            NameFull: Eileen C
      – PersonEntity:
          Name:
            NameFull: Ah-Sen G
      – PersonEntity:
          Name:
            NameFull: Osman R
      – PersonEntity:
          Name:
            NameFull: Green-Sanderson K
      – PersonEntity:
          Name:
            NameFull: Dvaladze A
      – PersonEntity:
          Name:
            NameFull: Nimmo G
      – PersonEntity:
          Name:
            NameFull: Deshwar AR
      – PersonEntity:
          Name:
            NameFull: Paton T
      – PersonEntity:
          Name:
            NameFull: Casallo G
      – PersonEntity:
          Name:
            NameFull: Marshall CR
      – PersonEntity:
          Name:
            NameFull: Heon E
      – PersonEntity:
          Name:
            NameFull: Vincent A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 28
              M: 03
              Text: 2026 Mar 28
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2056-7944
          Numbering:
            – Type: volume
              Value: 11
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: NPJ genomic medicine
              Type: main
ResultId 1