Nature Communications (Nov 2022)
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing
- William L. Macken,
- Micol Falabella,
- Caroline McKittrick,
- Chiara Pizzamiglio,
- Rebecca Ellmers,
- Kelly Eggleton,
- Cathy E. Woodward,
- Yogen Patel,
- Robyn Labrum,
- Genomics England Research Consortium,
- Rahul Phadke,
- Mary M. Reilly,
- Catherine DeVile,
- Anna Sarkozy,
- Emma Footitt,
- James Davison,
- Shamima Rahman,
- Henry Houlden,
- Enrico Bugiardini,
- Rosaline Quinlivan,
- Michael G. Hanna,
- Jana Vandrovcova,
- Robert D. S. Pitceathly
Affiliations
- William L. Macken
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Micol Falabella
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Caroline McKittrick
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Chiara Pizzamiglio
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Rebecca Ellmers
- Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub
- Kelly Eggleton
- Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub
- Cathy E. Woodward
- NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery
- Yogen Patel
- Neurogenetics Unit, Rare and Inherited Disease Laboratory, North Thames Genomic Laboratory Hub
- Robyn Labrum
- NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery
- Genomics England Research Consortium
- Rahul Phadke
- Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust
- Mary M. Reilly
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Catherine DeVile
- Department of Neurosciences, Great Ormond Street Hospital for Children NHS Foundation Trust
- Anna Sarkozy
- Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust
- Emma Footitt
- Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust
- James Davison
- Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust
- Shamima Rahman
- Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust
- Henry Houlden
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Enrico Bugiardini
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Rosaline Quinlivan
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Michael G. Hanna
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Jana Vandrovcova
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- Robert D. S. Pitceathly
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology
- DOI
- https://doi.org/10.1038/s41467-022-32908-7
- Journal volume & issue
-
Vol. 13,
no. 1
pp. 1 – 9
Abstract
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist multidisciplinary team.
