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Additional file 1 of Genome sequencing as a generic diagnostic strategy for rare disease
Authors
Adam Pullen (17967433)
Aimee D. C. Paulussen (17967427)
+28 more
Alejandra Gutierrez (4856875)
Alexander Stegmann (17967424)
Amber den Ouden (17967406)
Arthur van den Wijngaard (18476)
Christian Gilissen (176174)
Debby Hellebrekers (17967421)
Dorien Lugtenberg (3546704)
Erik-Jan Kamsteeg (12888104)
Ermanno Bosgoed (17967412)
Gaby Schobers (12888080)
Han G. Brunner (12409573)
Helger G. Yntema (12888086)
Hilde Swinkels (17967409)
Jeroen van Reeuwijk (47588)
John Peden (258578)
Jordi Corominas Galbany (15406456)
Lisenka E. L. M. Vissers (10669956)
Marcel Nelen (6846389)
Marinus J. Blok (14900180)
Marjan Weiss (6921266)
Marjolijn J. L. Ligtenberg (8687649)
Nicole de Leeuw (703270)
Richelle A. C. M. Olde Keizer (17967418)
Ronny Derks (2271556)
Su Ming Sun (17967415)
Tom Hofste (12888092)
Tom Payne (17967436)
Xiangqun Zheng Bradley (17967430)
Publication date
14 February 2024
Publisher
Doi
Cite
Abstract
Additional file 1: Table S1. Online excel file providing overview of 1,000 individuals and workflows used. Table S2. Online excel file providing 1,271 genetic variants in 1,000 individuals. Table S4. Online excel file providing coverage statistics for 58,393 variants for which previously (likely) pathogenic variants were described. Table S5. Online excel file providing coverage statistics for 4,266 disease-associated genes
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Last time updated on 04/05/2024