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Updated: Jul 5, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Homozygosity mapping using pooled DNA
1University of Iowa, Iowa City, Iowa, USA.
Abstract:
Genomic screening is a common and popular method for localizing human disease genes. Genotyping each individual sample can be a laborintensive and expensive process. This unit describes the technique of pooling DNA from many related affected individuals, genotyping the resulting pools, and scoring the results. This technique can greatly reduce the effort required to screen for genetic linkage and is particularly useful when applied to inbred populations. The unit includes a table showing a pool of human STRP markers developed by the Cooperative Human Linkage Center.
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