A novel phenotype-guided genome analysis pipeline for variant discovery.
Saved in:
| 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.
Login for full access.
|
|
| ISSN: | 2056-7944 |
|---|---|
| DOI: | 10.1038/s41525-026-00557-0 |
