Additional file 1 of Genome sequencing as a generic diagnostic strategy for rare disease
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Genome_sequencing_as_a_generic_diagnostic_strategy_for_rare_disease/25223383/1
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资源简介：
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.
提供机构：
Kamsteeg, Erik-Jan; van den Wijngaard, Arthur; Corominas Galbany, Jordi; van Reeuwijk, Jeroen; Blok, Marinus J.; Hofste, Tom; Paulussen, Aimee D. C.; Bradley, Xiangqun Zheng; Weiss, Marjan; Derks, Ronny; Swinkels, Hilde; Nelen, Marcel; Schobers, Gaby; Payne, Tom; Gilissen, Christian; Ligtenberg, Marjolijn J. L.; Sun, Su Ming; de Leeuw, Nicole; Pullen, Adam; Lugtenberg, Dorien; Vissers, Lisenka E. L. M.; den Ouden, Amber; Brunner, Han G.; Olde Keizer, Richelle A. C. M.; Hellebrekers, Debby; Gutierrez, Alejandra; Peden, John; Bosgoed, Ermanno; Yntema, Helger G.; Stegmann, Alexander
创建时间：
2024-02-15
