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Updated: Oct 4, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Rolling circle amplification for scoring single nucleotide polymorphisms
1Amersham Pharmacia Biotech UK Limited, Amersham Place, Little Chalfont, Buckinghamshire, England.
Abstract:
The analysis of the genetic basis of phenotypic traits is moving towards the complex diseases prevalent in wealthy populations. There is an increasing requirement for the detection of different types of sequence variation, particularly single-nucleotide polymorphisms (SNPs). SNPs occur about once every 100 to 300 bases. High-density SNP maps will help to identify the multiple genes associated with complex diseases such as cancer, diabetes, vascular disease, and some forms of mental illness.
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