Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Abstract

Correction to: Genetics in Medicine 2020; https://doi.org/10.1038/s41436-020-0766-9, published online 03 March 2020 In the original version of this Article, the contribution of the Splicing and Disease Working Group was not acknowledged. The PDF and HTML versions of the Article have now been corrected to include the following clinical collaborators: Swati Naik, Nicola Ragge, Helen Cox, Jenny Morton, Mary O'Driscoll, Derek Lim, Deborah Osio, Frances Elmslie, Camilla Huber, Julie Hewitt; Heidy Brandon, Meriel McEntagart, Sahar Mansour, Nayana Lahiri, Esther Dempsey, Merrie Manalo, Tessa Homfray, Anand Saggar; Jin Li, Julian Barwell; Kate Chandler, Tracy Briggs, Sofia Douzgou, Julian Adlard, Alison Kraus; Sarju Mehta; Amy Watford, Alan Donaldson, Karen Low; Gabriela Jones, Abhijit Dixit, Elizabeth King, Nora Shannon; Marios Kaliakatsos; Merrie Manalo; Shelagh Joss; Meena Balasubramanian, Diana Johnson; Sarah Everest; Claire Salter, Victoria Harrison, Gillian Wise, Audrey Torokwa, Victoria Sands, Esther Pyle, Tessy Thomas, Katherine Lachlan, Nicola Foulds, Andrew Lotery, Andrew Douglas, Simon Hammans, Emily Pond, Rachel Horton, Mira Kharbanda, David Hunt, Charlene Thomas, Lucy Side, Catherine Willis, Stephanie Greville-Heygate, Rebecca Mawby, Catherine Mercer, Karen Temple, Esther Kinning; Ognjen Bojovic; L. Archer. Swati Naik, Nicola Ragge, Helen Cox, Jenny Morton, Mary O'Driscoll, Derek Lim, Deborah Osio, Frances Elmslie, Camilla Huber, Julie Hewitt; Heidy Brandon, Meriel McEntagart, Sahar Mansour, Nayana Lahiri, Esther Dempsey, Merrie Manalo, Tessa Homfray, Anand Saggar; Jin Li, Julian Barwell; Kate Chandler, Tracy Briggs, Sofia Douzgou, Julian Adlard, Alison Kraus; Sarju Mehta; Amy Watford, Alan Donaldson, Karen Low; Gabriela Jones, Abhijit Dixit, Elizabeth King, Nora Shannon; Marios Kaliakatsos; Merrie Manalo; Shelagh Joss; Meena Balasubramanian, Diana Johnson; Sarah Everest; Claire Salter, Victoria Harrison, Gillian Wise, Audrey Torokwa, Victoria Sands, Esther Pyle, Tessy Thomas, Katherine Lachlan, Nicola Foulds, Andrew Lotery, Andrew Douglas, Simon Hammans, Emily Pond, Rachel Horton, Mira Kharbanda, David Hunt, Charlene Thomas, Lucy Side, Catherine Willis, Stephanie Greville-Heygate, Rebecca Mawby, Catherine Mercer, Karen Temple, Esther Kinning; Ognjen Bojovic; L. Archer. These authors contributed equally: Htoo A. Wai, Jenny Lord. These senior authors contributed equally: Andrew G. L. Douglas, Diana Baralle. The original article can be found online at https://doi.org/10.1038/s41436-020-0766-9. Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significanceGenetics in MedicineVol. 22Issue 6PreviewDiagnosis of genetic disorders is hampered by large numbers of variants of uncertain significance (VUSs) identified through next-generation sequencing. Many such variants may disrupt normal RNA splicing. We examined effects on splicing of a large cohort of clinically identified variants and compared performance of bioinformatic splicing prediction tools commonly used in diagnostic laboratories. Full-Text PDF Open Access

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