Encode Fingerprinted

Nature Communications 11, Article Number: 3697, 2020

 

Detecting Sample Swaps in Diverse NGS Data Types Using Linkage Disequilibrium. Nauman Javed, et al. 

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The paper presents a tool for evaluating sample relatedness and detecting incorrectly paired sequencing datasets from different donors. The algorithm was written to be effective even when data are sparse or generated from different assays. It was run against ENCODE data, finding that about one percent of its datasets were mislabeled. In the illustration, the powdered fingerprint is a reference to the process of sample verification. Its pattern and colors are pointing to the iconic ENCODE chromosome boundaries image, seen on the cover of the September 6, 2012 issue of Nature. The checkmark drawn through the powder represents the label verification results.

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2020