Additional file 1 of Recommendations for clinical interpretation of variants found in non-coding regions of the genome

Name: Additional file 1 of Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Creator: Duff-Farrier, Celia; Krishnan, Neesha; Newman, William G.; Baralle, Diana; Downes, Kate; Campbell, Chris; Harrison, Steven M.; Ellingford, Jamie M.; Lord, Jenny; Martin, Hilary C.; Rehm, Heidi L.; Singer-Berk, Moriel; Ahn, Joo Wook; FitzPatrick, David R.; Whiffin, Nicola; Wright, Caroline F.; Barton, Stephanie; Ellard, Sian; Williams, Maggie; Ramsden, Simon C.; Ingles, Jodie; Greally, John M.; Bagnall, Richard D.; Wood, Jordan C.; Taylor, Jenny C.; O’Donnell-Luria, Anne; Richardson, Ebony
Published: 2022-07-19 00:00:00
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Figshare2022-07-19 更新2026-04-08 收录

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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Recommendations_for_clinical_interpretation_of_variants_found_in_non-coding_regions_of_the_genome/20336722/1

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Additional file 1: Table S1. Variants used to test usability of guidelines. Table S2. Questions and responses from the UK Association for Clinical Genomic Science (ACGS) meeting. Table S3. Overview of recommendations for all ACMG/AMP rules. Table S4. Accessibility of in silico tools for genome-wide variant prioritisation.

提供机构：

Duff-Farrier, Celia; Krishnan, Neesha; Newman, William G.; Baralle, Diana; Downes, Kate; Campbell, Chris; Harrison, Steven M.; Ellingford, Jamie M.; Lord, Jenny; Martin, Hilary C.; Rehm, Heidi L.; Singer-Berk, Moriel; Ahn, Joo Wook; FitzPatrick, David R.; Whiffin, Nicola; Wright, Caroline F.; Barton, Stephanie; Ellard, Sian; Williams, Maggie; Ramsden, Simon C.; Ingles, Jodie; Greally, John M.; Bagnall, Richard D.; Wood, Jordan C.; Taylor, Jenny C.; O’Donnell-Luria, Anne; Richardson, Ebony

创建时间：

2022-07-19