Recommendations for clinical interpretation of variants found in non-coding regions of the genome

被引：0

作者：

Jamie M. Ellingford

Joo Wook Ahn

Richard D. Bagnall

Diana Baralle

Stephanie Barton

Chris Campbell

Kate Downes

Sian Ellard

Celia Duff-Farrier

David R. FitzPatrick

John M. Greally

Jodie Ingles

Neesha Krishnan

Jenny Lord

Hilary C. Martin

William G. Newman

Anne O’Donnell-Luria

Simon C. Ramsden

Heidi L. Rehm

Ebony Richardson

Moriel Singer-Berk

Jenny C. Taylor

Maggie Williams

Jordan C. Wood

Caroline F. Wright

Steven M. Harrison

Nicola Whiffin

机构：

[1] University of Manchester,Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health

[2] Manchester University NHS Foundation Trust,Manchester Centre for Genomic Medicine, St Mary’s Hospital

[3] Genomics England,Cambridge Genomics Laboratory

[4] Cambridge University Hospitals NHS Foundation Trust,Agnes Ginges Centre for Molecular Cardiology at Centenary Institute

[5] Cambridge Biomedical Campus,School of Human Development and Health, Faculty of Medicine

[6] University of Sydney,Wessex Clinical Genetics Service

[7] University of Southampton,South West Genomic Laboratory Hub, Exeter Genomic Laboratory

[8] University Hospital Southampton NHS Foundation Trust,South West NHS Genomic Laboratory Hub, Bristol Genetics Laboratory

[9] Institute of Biomedical and Clinical Science,MRC Human Genetics Unit

[10] University of Exeter Medical School,Department of Pediatrics, Division of Pediatric Genetic, Medicine

[11] Royal Devon and Exeter NHS Foundation Trust,Centre for Population Genomics

[12] North Bristol NHS Trust,Human Genetics Programme

[13] Institute of Genetics and Cancer,Program in Medical and Population Genetics

[14] University of Edinburgh,Division of Genetics and Genomics

[15] Western General Hospital,Analytic and Translational Genetics Unit

[16] Children’s Hospital at Montefiore/Montefiore Medical Center/Albert,National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics

[17] Einstein College of Medicine,Wellcome Centre for Human Genetics

[18] Garvan Institute of Medical Research,undefined

[19] and UNSW Sydney,undefined

[20] Centre for Population Genomics,undefined

[21] Murdoch Children’s Research Institute,undefined

[22] Wellcome Sanger Institute,undefined

[23] Wellcome Genome Campus,undefined

[24] Broad Institute of MIT and Harvard,undefined

[25] Boston Children’s Hospital,undefined

[26] Massachusetts General Hospital,undefined

[27] University of Oxford,undefined

[28] University of Oxford,undefined

[29] Ambry Genetics,undefined

来源：

Genome Medicine | / 14卷

关键词：

Variant interpretation; Non-coding variation; Gene regulation;

D O I：

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摘要：

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[1] Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Ellingford, Jamie M.
Ahn, Joo Wook
Bagnall, Richard D.
Baralle, Diana
Barton, Stephanie
Campbell, Chris
Downes, Kate
Ellard, Sian
Duff-Farrier, Celia
FitzPatrick, David R.
Greally, John M.
Ingles, Jodie
Krishnan, Neesha
Lord, Jenny
Martin, Hilary C.
Newman, William G.
O'Donnell-Luria, Anne
Ramsden, Simon C.
Rehm, Heidi L.
Richardson, Ebony
Singer-Berk, Moriel
Taylor, Jenny C.
Williams, Maggie
Wood, Jordan C.
Wright, Caroline F.
Harrison, Steven M.
Whiffin, Nicola
GENOME MEDICINE, 2022, 14 (01)
[2] Recommendations for clinical interpretation of variants in non-coding regions of the genome
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Ahn, Joo Wook
Bagnall, Richard
Baralle, Diana
Barton, Stephanie
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Ellard, Sian
Duff-Farrier, Celia
FitzPatrick, David
Greally, John
Ingles, Jodie
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Martin, Hilary
Newman, William
O'Donnell-Luria, Anne
Ramsden, Simon
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Singer-Berk, Moriel
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Wood, Jordan
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