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.
Characterization and identification of hidden rare variants in the human genome / Magi, Alberto; D'Aurizio, Romina; Palombo, Flavia; Cifola, Ingrid; Tattini, Lorenzo; Semeraro, Roberto; Pippucci, Tommaso; Giusti, Betti; Romeo, Giovanni; Abbate, Rosanna; Gensini, Gian Franco. - In: BMC GENOMICS. - ISSN 1471-2164. - ELETTRONICO. - 16:(2015), pp. 0-0. [10.1186/s12864-015-1481-9]
Characterization and identification of hidden rare variants in the human genome
MAGI, ALBERTO;TATTINI, LORENZO;SEMERARO, ROBERTO;GIUSTI, BETTI;ABBATE, ROSANNA;GENSINI, GIAN FRANCO
2015
Abstract
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.
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