Article
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
American journal of human genetics - 3 Nov 2022
Tudini Emma, Andrews James, Lawrence David M, King-Smith Sarah L, Baker Naomi, Baxter Leanne, Beilby John, Bennetts Bruce, Beshay Victoria, Black Michael, Boughtwood Tiffany F, Brion Kristian, Cheong Pak Leng, Christie Michael, Christodoulou John, Chong Belinda, Cox Kathy, Davis Mark R, Dejong Lucas, Dinger Marcel E, Doig Kenneth D, Douglas Evelyn, Dubowsky Andrew, Ellul Melissa, Fellowes Andrew, Fisk Katrina, Fortuno Cristina, Friend Kathryn, Gallagher Renee L, Gao Song, Hackett Emma, Hadler Johanna, Hipwell Michael, Ho Gladys, Hollway Georgina, Hooper Amanda J, Kassahn Karin S, Krishnaraj Rahul, Lau Chiyan, Le Huong, San Leong Huei, Lundie Ben, Lunke Sebastian, Marty Anthony, McPhillips Mary, Nguyen Lan T, Nones Katia, Palmer Kristen, Pearson John V, Quinn Michael C J, Rawlings Lesley H, Sadedin Simon, Sanchez Louisa, Schreiber Andreas W, Sigalas Emanouil, Simsek Aygul, Soubrier Julien, Stark Zornitza, Thompson Bryony A, U James, Vakulin Cassandra G, Wells Amanda V, Wise Cheryl A, Woods Rick, Ziolkowski Andrew, Brion Marie-Jo, Scott Hamish S, Thorne Natalie P, Spurdle Amanda B
Abstract excerpt
Sharing genomic variant interpretations across laboratories promotes consistency in variant assertions. A landscape analysis of Australian clinical genetic-testing laboratories in 2017 identified that, despite the national-accreditation-body recommendations encouraging laboratories to submit genotypic data to clinical databases, fewer than 300 variants had been shared to the ClinVar public database. Consultations...
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