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Article
Open AccessVariant discovery in targeted resequencing using whole genome amplified DNA
Next generation sequencing and advances in genomic enrichment technologies have enabled the discovery of the full spectrum of variants from common to rare alleles in the human population. The application of su...
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Article
Open AccessThe functional spectrum of low-frequency coding variation
Rare coding variants constitute an important class of human genetic variation, but are underrepresented in current databases that are based on small population samples. Recent studies show that variants alteri...
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Article
Proportionally more deleterious genetic variation in European than in African populations
The analysis of genome-wide patterns of variation in human populations can provide genetic evidence of patterns of human migration and adaptation across the world. Two contrasting papers in this issue illustra...
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Article
Open AccessAnalysis of concordance of different haplotype block partitioning algorithms
Different classes of haplotype block algorithms exist and the ideal dataset to assess their performance would be to comprehensively re-sequence a large genomic region in a large population. Such data sets are ...
