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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Genomics
Prif Awduron: Magi, Alberto, D’Aurizio, Romina, Palombo, Flavia, Cifola, Ingrid, Tattini, Lorenzo, Semeraro, Roberto, Pippucci, Tommaso, Giusti, Betti, Romeo, Giovanni, Abbate, Rosanna, Gensini, Gian Franco
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2015
Pynciau:
Research Article
Mynediad Ar-lein: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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