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integrarray_qc_guidelines [2025/12/23 16:13] – [Molecular validation of findings.] 206.192.168.19integrarray_qc_guidelines [2026/01/23 21:20] (current) – Added Files 206.192.168.19
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 ==== 1. Genotype Calling ==== ==== 1. Genotype Calling ====
  
-Genotypes were called for many samples at the Center for Inherited Disease Research (CIDR). The genotyping platform used was the Global Screening Plus Custom Array (here called the GSA array but also referenced as product by BPM Amos_Custom_20032937X382854_A1, genome build GRCh38/hg38), with the calling algorithm GenomeStudio version 2011.1, Genotyping Module version 1.9.4, GenTrain Version 1.0. The array consists of a total of 741,786 genotyped SNPs and 0 intensity-only probe. The custom component was configured with about 46,789 additional genotypes (based on 50,000 available beadtypes). The annotated file of SNPs configured for the array is denoted as‘Annotated file’. The requested SNPs and genes are included in ‘VariantListsforArray’. The CIDR quality control (QC) steps follow the R packages GWASTools (Gogarten SM et al. 2012), GENESIS (Conomos MP et al. 2017) and SNPRelate (Zheng X et al. 2012). The methods of QA/QC used by CIDR were described in (Laurie CC et al. 2010).+Genotypes were called for many samples at the Center for Inherited Disease Research (CIDR). The genotyping platform used was the Global Screening Plus Custom Array (here called the GSA array but also referenced as product by BPM Amos_Custom_20032937X382854_A1, genome build GRCh38/hg38), with the calling algorithm GenomeStudio version 2011.1, Genotyping Module version 1.9.4, GenTrain Version 1.0. The array consists of a total of 741,786 genotyped SNPs and 0 intensity-only probe. The custom component was configured with about 46,789 additional genotypes (based on 50,000 available beadtypes). The annotated file of SNPs configured for the array is denoted as ‘{{ :annotatedfile.xlsx |Annotated file}}’. The requested SNPs and genes are included in ‘{{ :variantlistsforarray.xlsx |VariantListsforArray}}’. The CIDR quality control (QC) steps follow the R packages GWASTools (Gogarten SM et al. 2012), GENESIS (Conomos MP et al. 2017) and SNPRelate (Zheng X et al. 2012). The methods of QA/QC used by CIDR were described in (Laurie CC et al. 2010).
  
 ===== 2. Sample QC ===== ===== 2. Sample QC =====
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-No samples were dropped; all samples will be included in the imputation, the marker lists of all steps can be found in file: {{ :duplicates-report-reformattedgood.xlsx |}}+No samples were dropped; all samples will be included in the imputation, the marker lists of all steps can be found in file: {{ :integrarray_qc_guidelines_marker_list.xlsx |}}
  
   *  **735,370** markers in the original release (chr1–chr23)   *  **735,370** markers in the original release (chr1–chr23)
integrarray_qc_guidelines.1766506421.txt.gz · Last modified: by 206.192.168.19