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...

詳細記述

保存先:
書誌詳細
出版年:BMC Genomics
主要な著者: Magi, Alberto, D’Aurizio, Romina, Palombo, Flavia, Cifola, Ingrid, Tattini, Lorenzo, Semeraro, Roberto, Pippucci, Tommaso, Giusti, Betti, Romeo, Giovanni, Abbate, Rosanna, Gensini, Gian Franco
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2015
主題:
Research Article
オンライン･アクセス: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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