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Gene panel for intellectual disability containing 849 genes
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创建时间：
2023-01-11
相关数据集
Additional file 2: Table S1. of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
Test of relatedness - Table showing relatedness for each trio by comparing SNP concordance between child, mother and father. (XLSX 17 kb)
Figshare2017-05-25 更新190
Detection and characterizing CNVs identified by tiling resolution BAC array CGH.. Homo sapiens
In this study 405 patients with unexplained mental retardation and 89 unaffected parents were analyzed for DNA copy-number changes using a tiling-resolution genomewide microarray containing 32,447 BAC
NIAID Data Ecosystem120
Additional file 8: Table S6. of Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
Raw data for SNVs detected across all patients by Mendelian Inheritance Pattern filtering â all SNVs detected per trio, organized as one trio per sheet, using the Mendelian inheritance filtering. Sh
Figshare2017-05-25 更新110
50_ID_WGS_CG_DESC_BvB40_F - samples
50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array,
NIAID Data Ecosystem150
Data.xlsxVariantes en pacientes con discapacidad intelectual
Este archivo contiene datos fenotípicos y variantes genéticas encontradas en un grupo de pacientes con discapacidad intelectual. Incluye los genes afectados y el tipo de variante identificada
Figshare2024-11-14 更新120
