P547: The clinician-reported Genetic testing Utility InDEX (C-GUIDE): Establishing content validity for a new measure for sequencing-based newborn screening

Autor: Luca, Stephanie, Fooks, Katharine, Poole, Elise, Pichini, Amanda, Ziff, Joanna, Stone, Katrina, Xiao, Bowen, Shickh, Salma, Bick, David, Chakraborty, Pranesh, Ungar, Wendy, Hayeems, Robin

Publikováno v: In Genetics in Medicine Open 2024 2 Supplement 1

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

Autor: Blakes, Alexander J.M., Wai, Htoo, Davies, Ian, Moledina, Hassan E, Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N Simon, Burren, Christine P, Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F., Tavares, Ana Lisa Taylor, O'Donovan, Peter, Douglas, Andrew, Whiffin, Nicola, Baralle, Diana, Lord, Jenny

Publikováno v: 2022, ' A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project ', Genome Medicine, vol. 14, no. 1, 79, pp. 79 . https://doi.org/10.1186/s13073-022-01087-x

Background Genomic variants which disrupt splicing are a major cause of rare genetic diseases. However, variants which lie outside of the canonical splice sites are difficult to interpret clinically. Improving the clinical interpretation of non-canon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55aacc8f470715800673917132574b81
https://research-information.bris.ac.uk/en/publications/0568f0f4-b7bf-4fb3-8bc1-6baa9a7ed462

Additional file 1 of A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

Autor: Blakes, Alexander J. M., Wai, Htoo A., Davies, Ian, Moledina, Hassan E., Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N. Simon, Burren, Christine P., Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F., Taylor Tavares, Ana Lisa, O’Donovan, Peter, Douglas, Andrew G. L., Whiffin, Nicola, Baralle, Diana, Lord, Jenny

Additional file 1. Supplementary Figs. S1, S2, S3, S4.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7e8a3033826e86773c45c0e85cdaa8

The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review

Autor: Alarcón Garavito, Germán Andrés, Moniz, Thomas, Déom, Noémie, Redin, Federico, Pichini, Amanda, Vindrola-Padros, Cecilia

Publikováno v: European Journal of Human Genetics: EJHG; March 2023, Vol. 31 Issue: 3 p282-295, 14p

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

Autor: Blakes, Alexander J. M., Wai, Htoo A., Davies, Ian, Moledina, Hassan E., Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N. Simon, Burren, Christine P., Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F., Taylor Tavares, Ana Lisa, O'Donovan, Peter, Douglas, Andrew G. L., Whiffin, Nicola, Baralle, Diana, Lord, Jenny

Publikováno v: Genome Medicine; 7/26/2022, Vol. 14 Issue 1, p1-11, 11p