Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
Comprehensive reanalysis after nondiagnostic rapid genome sequencing has utility for infants with unexplained epilepsy. Our findings support implementation of reanalysis within 1-2 years after nondiagnostic genomic sequencing into routine clinical care of children with unexplained epilepsy and the expansion of clinically accredited genomic sequencing to include complex and noncoding variant detection.
Authors
- Lyndsey McRae
- Paul De Fazio
- Neta Pipko
- Michael Yoong Yoong
- P. M. Lombard
- Brian J. McCabe (ORCID: https://orcid.org/0000-0003-4669-1364)
- Armando Caballero (ORCID: https://orcid.org/0000-0001-7391-6974)
- Natalie Jane Chandler (ORCID: https://orcid.org/0000-0003-1396-0740)
- Brett Trost (ORCID: https://orcid.org/0000-0003-4863-7273)
- Jenny Nguyen (ORCID: https://orcid.org/0009-0000-2226-1306)
- Marios Kaliakatsos (ORCID: https://orcid.org/0000-0001-6299-9866)
- Puneet Jain (ORCID: https://orcid.org/0000-0002-6420-4999)
- Jane Hassell
- Lacey Smith (ORCID: https://orcid.org/0000-0002-4456-0072)
- Sarah Mulhern
- White Sm
- Elizabeth Scotchman
- Alissa Maria D'Gama
- Wanqing Shao
- Vann Chau
- Emma Wakeling
- Amy McTague
- Ashley J. Pritchard
- Sarah E.M. Stephenson
- Annapurna Poduri
- J. Helen Cross
- Catherine Marx
- Edward J. Higginbotham
- Nicole S.Y. Liang
- Katherine B. Howell
- John Christodoulou
- Lyn S. Chitty
- Maria Lachgar-Ruiz
- Anna J.S. Griffiths
- Ingrid E. Scheffer
- Ashish R. Deshwar
- Christin Eltze
- Matthew Coleman
- Ben Paternoster
- Jashanpreet Sidhu
- Christian R. Marshall
- John Coleman
Institutions
- Boston Children's Hospital (US)
- Royal Children's Hospital (AU)
- Harvard University (US)
- The University of Melbourne (AU)
- University of Toronto (CA)
- Florey Institute of Neuroscience and Mental Health (AU)
- Great Ormond Street Hospital (GB)
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- Royal London Hospital (GB)
- Hospital for Sick Children (CA)
- Victorian Clinical Genetics Services (AU)
- SickKids Foundation (CA)
- Murdoch Children's Research Institute (AU)
- Boston Children's Museum (US)
- Royal London Hospital for Integrated Medicine (GB)
- Austin Health (AU)
- University College London (GB)
Publication Details
- Journal
- Neurology
- Published
- 2026-02-13
- DOI
- https://doi.org/10.1212/wnl.0000000000214645
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00