Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease-Reference-Cited by-同舟云学术

Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease

Published:2022-05-10 Issue:9 Volume:43 Page:1268-1285
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Chiorean Andreea¹,Farncombe Kirsten M.²,Delong Sean¹,Andric Veronica¹,Ansar Safa¹,Chan Clarissa¹,Clark Kaitlin³⁴,Danos Arpad M.³⁴,Gao Yizhuo¹,Giles Rachel H.⁵,Goldenberg Anna⁶,Jani Payal¹,Krysiak Kilannin³⁴,Kujan Lynzey³⁴,Macpherson Samantha¹,Maher Eamonn R.⁷⁸,McCoy Liam G.¹,Salama Yasser¹,Saliba Jason³⁴,Sheta Lana³⁴,Griffith Malachi³⁴,Griffith Obi L.³⁴^ORCID,Erdman Lauren⁶,Ramani Arun⁶,Kim Raymond H.⁹¹⁰¹¹¹²^ORCID

Affiliation:

1. Department of Medicine, Division of Medical Oncology University Health Network Toronto Ontario Canada

2. Toronto General Hospital Research Institute University Health Network Toronto Ontario Canada

3. Department of Medicine, Division of Oncology, Washington University School of Medicine Washington University St. Louis Missouri USA

4. McDonnell Genome Institute Washington University School of Medicine Missouri St. Louis USA

5. International Kidney Cancer Coalition, Duivendrecht‐Amsterdam Duivendrecht The Netherlands

6. Genetics and Genome Biology The Hospital for Sick Children Toronto Ontario Canada

7. Department of Medical Genetics University of Cambridge Cambridge UK

8. NIHR Cambridge Biomedical Research Centre Cambridge Biomedical Campus Cambridge UK

9. Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre University Health Network and Sinai Health System Toronto Ontario Canada

10. Division of Clinical and Metabolic Genetics The Hospital for Sick Children Toronto Ontario Canada

11. Ontario Institute for Cancer Research Toronto Ontario Canada

12. Department of Medicine University of Toronto Toronto Ontario Canada

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24392

Reference67 articles.

1. Management of Gene Variants of Unknown Significance: Analysis Method and Risk Assessment of the VHL Mutation p.P81S (c.241C>T)

2. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium