PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.

Antonio Rueda Martin^#¹, Eleanor Williams^#¹, Rebecca E Foulger¹, Sarah Leigh¹, Louise C Daugherty¹, Olivia Niblock¹, Ivone U S Leong¹, Katherine R Smith^{1

2}, Oleg Gerasimenko¹, Eik Haraldsdottir¹, Ellen Thomas^{1

3}, Richard H Scott¹, Emma Baple^{1

4

5}, Arianna Tucci¹, Helen Brittain¹, Anna de Burca^{1

6}, Kristina Ibañez¹, Dalia Kasperaviciute^{1

2}, Damian Smedley^{1

2}, Mark Caulfield^{1

2}, Augusto Rendon^{1

7}, Ellen M McDonagh^{8

9}

¹ Genomics England, London, UK.
² William Harvey Research Institute, Queen Mary University of London, London, UK.
³ Imperial College Healthcare NHS Trust, London, UK.
⁴ Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
⁵ Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK.
⁶ Oxford Centre for Genomic Medicine, Oxford University Hospitals, Oxford, UK.
⁷ Department of Haematology, University of Cambridge, Cambridge, UK.
⁸ Genomics England, London, UK. ellen.mcdonagh@genomicsengland.co.uk.
⁹ William Harvey Research Institute, Queen Mary University of London, London, UK. ellen.mcdonagh@genomicsengland.co.uk.

^# Contributed equally.

No abstract available

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