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. 2019 Nov;51(11):1560-1565.

doi: 10.1038/s41588-019-0528-2.

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

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}

Affiliations

Affiliations

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.

PMID: 31676867
DOI: 10.1038/s41588-019-0528-2

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Antonio Rueda Martin et al. Nat Genet. 2019 Nov.

. 2019 Nov;51(11):1560-1565.

doi: 10.1038/s41588-019-0528-2.

Authors

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}

Affiliations

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.

PMID: 31676867
DOI: 10.1038/s41588-019-0528-2

No abstract available

PubMed Disclaimer

References

1. Richards, S. et al. Genet. Med. 17, 405–424 (2015). - DOI
1. Chambers, C., Jansen, L. A. & Dhamija, R. J. Genet. Couns. 25, 213–217 (2016). - DOI
1. Platt, J., Cox, R. & Enns, G. M. J. Genet. Couns. 23, 594–603 (2014). - DOI
1. Hoyle, J. Joint UKGTN/ACGS workshop: towards clinical genome sequencing: quality assurance of tests 10th February 2015. NHS UK Genetic Testing Network https://ukgtn.nhs.uk/resources/conferences-workshops/article/joint-ukgtn... (2015).
1. Davies, S. C. Annual Report of the Chief Medical Officer2016, GenerationGenome (Department of Health, London, 2017).

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