Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nicola Whiffin; Konrad J Karczewski; Xiaolei Zhang; Sonia Chothani; Miriam J Smith; D Gareth Evans; Angharad M Roberts; Nicholas M Quaife; Sebastian Schafer; Owen Rackham; Jessica Alföldi; Anne H O’Donnell-Luria; Laurent C Francioli; Genome Aggregation Database (gnomAD) Production Team; Genome Aggregation Database (gnomAD) Consortium; Stuart A Cook; Paul J R Barton; Daniel G MacArthur; James S Ware

doi:10.1101/543504

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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

View ORCID ProfileNicola Whiffin, View ORCID ProfileKonrad J Karczewski, Xiaolei Zhang, Sonia Chothani, View ORCID ProfileMiriam J Smith, View ORCID ProfileD Gareth Evans, View ORCID ProfileAngharad M Roberts, Nicholas M Quaife, Sebastian Schafer, View ORCID ProfileOwen Rackham, Jessica Alföldi, View ORCID ProfileAnne H O’Donnell-Luria, Laurent C Francioli, Genome Aggregation Database (gnomAD) Production Team, Genome Aggregation Database (gnomAD) Consortium, Stuart A Cook, View ORCID ProfilePaul J R Barton, Daniel G MacArthur, View ORCID ProfileJames S Ware

doi: https://doi.org/10.1101/543504

Nicola Whiffin

1National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK

2NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK

3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

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For correspondence: n.whiffin@imperial.ac.uk

Konrad J Karczewski

3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

4Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA

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Xiaolei Zhang

1National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK

2NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK

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Sonia Chothani

5Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, 8 College Road, Singapore

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Miriam J Smith

6NW Genomic Laboratory Hub, Centre for Genomic Medicine, Division of Evolution and Genomic Science, University of Manchester, St Mary’s Hospital, Manchester, UK

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ORCID record for Miriam J Smith

D Gareth Evans

6NW Genomic Laboratory Hub, Centre for Genomic Medicine, Division of Evolution and Genomic Science, University of Manchester, St Mary’s Hospital, Manchester, UK

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Angharad M Roberts

1National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK

2NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK

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Nicholas M Quaife

1National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK

2NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK

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Sebastian Schafer

5Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, 8 College Road, Singapore

7National Heart Centre Singapore, Singapore

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Owen Rackham

5Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, 8 College Road, Singapore

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Jessica Alföldi

3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

4Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA

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Anne H O’Donnell-Luria

3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

4Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA

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Laurent C Francioli

3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

4Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA

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Stuart A Cook

1National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK

5Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, 8 College Road, Singapore

7National Heart Centre Singapore, Singapore

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Paul J R Barton

1National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK

2NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK

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Daniel G MacArthur

3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

4Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA

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James S Ware

1National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, UK

2NIHR Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, UK

3Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nicola Whiffin, Konrad J Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J Smith, D Gareth Evans, Angharad M Roberts, Nicholas M Quaife, Sebastian Schafer, Owen Rackham, Jessica Alföldi, Anne H O’Donnell-Luria, Laurent C Francioli, Genome Aggregation Database (gnomAD) Production Team, Genome Aggregation Database (gnomAD) Consortium, Stuart A Cook, Paul J R Barton, Daniel G MacArthur, James S Ware

bioRxiv 543504; doi: https://doi.org/10.1101/543504

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