Article
Characterization and identification of hidden rare variants in the human genome.
BMC genomics - 24 Apr 2015
Magi Alberto, D'Aurizio Romina, Palombo Flavia, Cifola Ingrid, Tattini Lorenzo, Semeraro Roberto, Pippucci Tommaso, Giusti Betti, Romeo Giovanni, Abbate Rosanna, Gensini Gian Franco
Abstract excerpt
BACKGROUND: By examining the genotype calls generated by the 1000 Genomes Project we discovered that the human reference genome GRCh37 contains almost 20,000 loci in which the reference allele has never been observed in healthy individuals and around 70,000 loci in which it has been observed only in the heterozygous state. RESULTS: We show that a large fraction of this rare reference allele (RRA) loci belongs to...
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