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Chunk #46 — Technical Validation — ATAC-seq quality control

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CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder.
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On average, we obtained 28.8 million uniquely mapped reads per sample after removing duplicate reads (mean 42%, sd ±9.5%) and those aligned to the mitochondrial genome (mean 8.9%, sd ±2.2%). Analyses included autosomes and sex chromosomes unless stated otherwise. The comparison of fractions of fragment in peaks (FRiP) was used to mark the replicates of lower quality for nine individuals that have more than one sample present in the dataset. Since we requested only one sample per individual, those nine replicates with lower FRiP were excluded. Using the sex check pipeline, two individuals were found to be genetically females though initially reported as males in the sample description (Fig. 3). However, further inspection revealed that they were diagnosed with Klinefelter’s syndrome that biases this observation. No other sex abnormalities or mismatches were observed. For nine individuals, VerifyBamID detected an improper matching between ATAC-seq and Illumina genotyping (see below). Therefore, these samples were excluded together with additional nineteen samples that were identified as possibly contaminated, leaving a final total of 269 samples (Fig. 4). Using this dataset, we generated a set