The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling

• Andrew D. Paterson ,

  Roles Conceptualization, Investigation, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: andrew.paterson@sickkids.ca

  Affiliations Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, Divisions of Epidemiology and Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada

  https://orcid.org/0000-0002-9169-118X

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• Sang-Cheol Seok,

  Roles Formal analysis, Investigation, Methodology, Software, Visualization, Writing – review & editing

  Affiliation Mathematical Medicine LLC, Chicago, IL, United States of America

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• Veronica J. Vieland

  Roles Conceptualization, Formal analysis, Investigation, Methodology, Software, Supervision, Writing – original draft, Writing – review & editing

  Affiliations Mathematical Medicine LLC, Chicago, IL, United States of America, Departments of Pediatrics and Biostatistics (Emerita), The Ohio State University, Columbus, OH, United States of America

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