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Supplementary Material for: Evaluating the Influence of Quality Control Decisions and Software Algorithms on SNP Calling for the Affymetrix 6.0 SNP Array Platform

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DataCite Commons2020-09-02 更新2024-07-25 收录
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https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Evaluating_the_Influence_of_Quality_Control_Decisions_and_Software_Algorithms_on_SNP_Calling_for_the_Affymetrix_6_0_SNP_Array_Platform/5122510
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<i>Objective:</i> Our goal was to evaluate the influence of quality control (QC) decisions using two genotype calling algorithms, CRLMM and Birdseed, designed for the Affymetrix SNP Array 6.0. <i>Methods:</i> Various QC options were tried using the two algorithms and comparisons were made on subject and call rate and on association results using two data sets. <i>Results:</i> For Birdseed, we recommend using the contrast QC instead of QC call rate for sample QC. For CRLMM, we recommend using the signal-to-noise rate ≧4 for sample QC and a posterior probability of 90% for genotype accuracy. For both algorithms, we recommend calling the genotype separately for each plate, and dropping SNPs with a lower call rate (&lt;95%) before evaluating samples with lower call rates. To investigate whether the genotype calls from the two algorithms impacted the genome-wide association results, we performed association analysis using data from the GENOA cohort; we observed that the number of significant SNPs were similar using either CRLMM or Birdseed. <i>Conclusions:</i> Using our suggested workflow both algorithms performed similarly; however, fewer samples were removed and CRLMM took half the time to run our 854 study samples (4.2 h) compared to Birdseed (8.4 h).
提供机构:
Karger Publishers
创建时间:
2017-06-20
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