Article
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Journal of medical genetics - 1 Jun 2022
Mighton Chloe, Smith Amanda C, Mayers Justin, Tomaszewski Robert, Taylor Sherryl, Hume Stacey, Agatep Ron, Spriggs Elizabeth, Feilotter Harriet E, Semenuk Laura, Wong Henry, Lazo de la Vega Lorena, Marshall Christian R, Axford Michelle M, Silver Talia, Charames George S, Di Gioacchino Vanessa, Watkins Nicholas, Foulkes William D, Clavier Marcos, Hamel Nancy, Chong George, Lamont Ryan E, Parboosingh Jillian, Karsan Aly, Bosdet Ian, Young Sean S, Tucker Tracy, Akbari Mohammad Reza, Speevak Marsha D, Vaags Andrea K, Lebo Matthew S, Lerner-Ellis Jordan
Abstract excerpt
BACKGROUND: This study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for variant sharing and interpretation. METHODS: Laboratories uploaded variant data to the Franklin Genoox platform. Reports were issued to each laboratory, summarising variants where conflicting...
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