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Snp6 array

Manufactured by Thermo Fisher Scientific
Sourced in Denmark

The SNP6 array is a high-density genotyping platform designed for genome-wide association studies (GWAS) and copy number variation (CNV) analysis. It provides comprehensive coverage of common genetic variations across the human genome.

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5 protocols using snp6 array

1

Genomic Profiling of Tissue and Blood Samples

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Cambridge: gDNA and total mRNA were extracted from tissue samples (Qiagen AllPrep), and gDNA from whole blood (Tepnel). All DNAs were assayed on Illumina HumanOmni2.5–8 M bead chip arrays; 16 samples were also assayed on Affymetrix SNP6 arrays (Aros, Denmark). Stockholm gDNA samples were assayed on Affymetrix SNP6 arrays, as previously described (Liu et al., 2012 (link)). All mRNAs were profiled on Illumina HT12 v4 BeadChip arrays.
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2

Identifying Tumor Oncogenes and Suppressors

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Segmented DNA copy-number data for tumor and normal samples were obtained using Affymetrix SNP6 arrays by TCGA. We compared log-ratio copy number values between tumor samples and matched normal samples using paired Wilcoxon tests and corrected p-values using Benjamini-Hochberg’s procedure. We required genes to have a mean copy number difference larger than 0.1 between tumors and normal to prevent small effects becoming significant because of a large number of samples. For genes with significant difference in copy-number (FDR < 0.05), we calculated the Spearman correlation between copy-number and gene expression (Fig. S14). A gene was scored as potential tumor suppressor or oncogene if 1) its copy-number value in tumor samples was significantly lower or higher than in normal samples and 2) the copy-number was significantly (FDR < 0.05) positively correlated with gene expression across the tumor samples.
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3

Genotyping of DNA from Buffy Coat Samples

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DNA extracted from buffy coat samples were genotyped using Affymetrix Genome-Wide Human SNP 6.0 array following manufacture’s protocol56 (link). Affymetrix SNP 6 array has independent probes for SNPs (~ 906,600 probes) and CNVs (~ 946,000 probes). Genotyping quality control was assessed using Birdseed V2 algorithm in Affymetrix genotyping console. Sample Contrast Quality Control (CQC) ≥ 1.7 indicates acceptable genotyping quality. All our study samples had a CQC value more than 2.
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4

Comprehensive Genomic Profiling Protocol

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Affymetrix SNP6 array data from the CCLE were processed together, quantile-normalized, and median-polished with Affymetrix power tools (25 (link)). The birdseed algorithm was used for genotyping. PennCNV was employed to generate log R ratio and B-allele frequencies (26 (link)). ASCAT was used to generate allele-specific copy number information, which was then used to compute LST, NtAI, HRD-LOH scores in the R statistical environment (v3.0.2) following methods outlined in the initial publications (17 (link)–19 (link)).
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5

Colorectal Organoid Exome Sequencing

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Pairs of DNA derived from colorectal organoids and blood from the same patients were shipped to the Sanger Institute for sequencing. Each DNA sample, from tumor and normal separately, was sent for exome sequencing on the HISEQ 2000 sequencer. After mapping the sequencing reads to the reference genome, we obtained an estimate of sequencing coverage of the exome of 147X, with standard deviation of 56X. In order to obtain reliable copy-number profiles, each DNA sample was also genotyped using the Affymetrix SNP6 array. Prior to that the samples were confirmed to originate from the same patient by genotyping a small number of polymorphisms, where only two pairs were inconsistent and rejected.
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