ArticleAmerican journal of human genetics2019
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.
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Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11citing papers in PubMed
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Who cites it
11 citing papers in PubMed.
- Population Reference Data in the Molecular Diagnosis of Pathogenic CAPN3 Variants: Contextual Evidence and Interpretive Limits.Molecular diagnosis & therapy · 2026Article
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.Precision clinical medicine · 2025Article
- Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.American journal of human genetics · 2024Article
- Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation.Nature communications · 2023Article
- The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.Scientific reports · 2023Article
- Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.The Journal of pathology · 2022Article
- Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.The Journal of pathology · 2022Article
- Clinical Genetic Screening in Adult Patients with Kidney Disease.Clinical journal of the American Society of Nephrology : CJASN · 2020Review
- Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.Human mutation · 2019Article
- Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.BMC medical genetics · 2019Article
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Authors and funding
16 authors.
Nicola WhiffinCardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, W12 0NN, UK.
Angharad M RobertsCardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK.
Eric MinikelAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
Zach ZappalaAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
Roddy WalshCardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK.
Anne H O'Donnell-LuriaAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
Konrad J KarczewskiAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.
Steven M HarrisonLaboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 021319, USA; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Kate L ThomsonOxford Medical Genetics Laboratory, Oxford University Hospitals National Health Service Foundation Trust, Oxford, OX3 7LJ, UK; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, OX3 9DU, UK.
Helen SageOxford Medical Genetics Laboratory, Oxford University Hospitals National Health Service Foundation Trust, Oxford, OX3 7LJ, UK.
Alexander Y IngLaboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 021319, USA; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Paul J R BartonCardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK.
Birgit FunkeLaboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 021319, USA; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Stuart A CookCardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK; National Heart Centre Singapore, Singapore, 169609.
Daniel G MacArthurAnalytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.
James S WareCardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, W12 0NN, UK; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA. Electronic address: j.ware@imperial.ac.uk.
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MTRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0MComputational resources for genomic interpretation of type 2 diabetesU54DK105566 · NIDDK · BROAD INSTITUTE, INC. · PI MACARTHUR, DANIEL G, NEALE, BENJAMIN MICHAEL · 2014 to 2017
$8.6MAnnotation and interpretation of loss-of-function polymorphisms in human genomesR01GM104371 · NIGMS · MASSACHUSETTS GENERAL HOSPITAL · PI MACARTHUR, DANIEL G · 2013 to 2016
$1.3MDeveloping in vitro assays to identify small molecules that inhibit human prionsF31AI122592 · NIAID · HARVARD MEDICAL SCHOOL · PI MINIKEL, ERIC VALLABH · 2016 to 2018
$99kBritish Heart Foundation SP/10/10/28431Department of Health NIHR-HCS-D13-04-006Medical Research Council MC_U120085815Medical Research Council MC_UP_1102/20NHGRI NIH HHS UM1 HG008900NIAID NIH HHS F31 AI122592NIDDK NIH HHS U54 DK105566NIGMS NIH HHS R01 GM104371NIGMS NIH HHS T32 GM007748Wellcome Trust 107469/Z/15/Z
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