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Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.

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Title: Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures.
Authors: Reko N; Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada., Torabi-Marashi A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Kallurkar P; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Goodman SJ; Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Awamleh Z; Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Turinsky AL; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada., Grafodatskaya D; Faculty of Health Sciences, Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Centre, Hamilton, ON, Canada., Russell BE; Department of Human Genetics, Division of Clinical Genetics, David Geffen School of Medicine at University of California, Los Angeles, CA, USA., Chong K; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada., Ko JM; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea., Alkhunaizi E; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Greenfeld E; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada., Scherer SW; Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, ON, Canada., McCready E; Faculty of Health Sciences, Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Centre, Hamilton, ON, Canada., Weksberg R; Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. Electronic address: rweksb@sickkids.ca., Choufani S; Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
Source: American journal of human genetics [Am J Hum Genet] 2026 Aug 06; Vol. 113 (8), pp. 1665-1678. Date of Electronic Publication: 2026 Jul 23.
Publication Type: Journal Article
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Reko+N%22">Reko N</searchLink>; Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Torabi-Marashi+A%22">Torabi-Marashi A</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Kallurkar+P%22">Kallurkar P</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Goodman+SJ%22">Goodman SJ</searchLink>; Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Awamleh+Z%22">Awamleh Z</searchLink>; Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Turinsky+AL%22">Turinsky AL</searchLink>; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Grafodatskaya+D%22">Grafodatskaya D</searchLink>; Faculty of Health Sciences, Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Centre, Hamilton, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Russell+BE%22">Russell BE</searchLink>; Department of Human Genetics, Division of Clinical Genetics, David Geffen School of Medicine at University of California, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Chong+K%22">Chong K</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Ko+JM%22">Ko JM</searchLink>; Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.<br /><searchLink fieldCode="AU" term="%22Alkhunaizi+E%22">Alkhunaizi E</searchLink>; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Chitayat+D%22">Chitayat D</searchLink>; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Greenfeld+E%22">Greenfeld E</searchLink>; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22McCready+E%22">McCready E</searchLink>; Faculty of Health Sciences, Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada; Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Centre, Hamilton, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Weksberg+R%22">Weksberg R</searchLink>; Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. Electronic address: rweksb@sickkids.ca.<br /><searchLink fieldCode="AU" term="%22Choufani+S%22">Choufani S</searchLink>; Genetics and Genome Biology, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.
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