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Characterization and identification of hidden rare variants in the human genome

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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:BMC Genomics
Main Authors: Magi, Alberto, D’Aurizio, Romina, Palombo, Flavia, Cifola, Ingrid, Tattini, Lorenzo, Semeraro, Roberto, Pippucci, Tommaso, Giusti, Betti, Romeo, Giovanni, Abbate, Rosanna, Gensini, Gian Franco
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2015
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4416239/
https://ncbi.nlm.nih.gov/pubmed/25903059
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-015-1481-9
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