Splicing Functional Assays Into the Genetic Testing Pipeline

Emma S Singer^{1

2}, Richard D Bagnall^{1

2}

Affiliations

¹ Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (E.S.S., R.D.B.), The University of Sydney, NSW, Australia.
² Faculty of Medicine and Health (E.S.S., R.D.B.), The University of Sydney, NSW, Australia.

Editorial

Emma S Singer et al. Circ Genom Precis Med. 2022 Dec.

. 2022 Dec;15(6):e003949.

doi: 10.1161/CIRCGEN.122.003949. Epub 2022 Nov 9.

Emma S Singer^{1

2}, Richard D Bagnall^{1

2}

¹ Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (E.S.S., R.D.B.), The University of Sydney, NSW, Australia.
² Faculty of Medicine and Health (E.S.S., R.D.B.), The University of Sydney, NSW, Australia.

No abstract available

Keywords: arrhythmia; clinical; functional assay; genetic test; heart disease.

Comment on

Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.
O'Neill MJ, Wada Y, Hall LD, Mitchell DW, Glazer AM, Roden DM. O'Neill MJ, et al. Circ Genom Precis Med. 2022 Dec;15(6):e003782. doi: 10.1161/CIRCGEN.122.003782. Epub 2022 Oct 5. Circ Genom Precis Med. 2022. PMID: 36197721 Free PMC article.