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Updated: Aug 15, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
A construction of pooling designs with some happy surprises
A D'Yachkov1, Frank Hwang, Antony Macula
1Department of Probability Theory, Faculty of Mechanics and Mathematics, Moscow State University, Moscow, 119992, Russia. agd-msu@yandex.ru
Abstract:
The screening of data sets for "positive data objects" is essential to modern technology. A (group) test that indicates whether a positive data object is in a specific subset or pool of the dataset can greatly facilitate the identification of all the positive data objects. A collection of tested pools is called a pooling design. Pooling designs are standard experimental tools in many biotechnical applications. In this paper, we use the (linear) subspace relation coupled with the general concept of a "containment matrix" to construct pooling designs with surprisingly high degrees of error correction (detection.) Error-correcting pooling designs are important to biotechnical applications where error rates often are as high as 15%. What is also surprising is that the rank of the pooling design containment matrix is independent of the number of positive data objects in the dataset.
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