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Updated: Aug 15, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
An evaluation of the use of pooled samples in studies of genetic variation
1Department of Genetics, University of Lund, Solvegatan 29, S-223 62 Lund, Sweden. thomas.kraft@seeds.novartis.com
Abstract:
When using molecular markers to study genetic variation, either the sampled individuals can be analysed individually or the individuals can be pooled and only the pools analysed (pooled samples). A theoretical investigation was carried out into the use of pooled samples in the detection of alleles and providing maximum likelihood estimates of allele frequency. The results show that, in many cases, pooled samples are more efficient than samples of individuals. Of the different pool sizes studied, small pools containing two or three individuals showed the smallest expected squared error of allele frequency estimates.
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