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Updated: May 17, 2026

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
Population genetic data of 30 autosomal indels in Central Spain and the Basque Country populations
Pablo Martín1, Oscar García, Beatriz Heinrichs
1Institute of Toxicology and Forensic Sciences, Biology Service, Las Rozas (Madrid), Spain.
Abstract:
Samples from 71 unrelated Central Spain individuals and 60 Basque Country autochthonous individuals were typed with the Investigator DIPplex kit (30 biallelic autosomal mini-indels and amelogenin) and their allele frequencies were determined. Results demonstrated the assumption of independence within and between the loci analyzed. Different partially silent alleles were observed for the locus HLD97 (rs17238892) produced by a neighboring SNP (A/G), located 61 bp downstream from the main indel site as shown by sequencing analysis.
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