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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Detalles Bibliográficos
Autores principales: Magi, Alberto, D’Aurizio, Romina, Palombo, Flavia, Cifola, Ingrid, Tattini, Lorenzo, Semeraro, Roberto, Pippucci, Tommaso, Giusti, Betti, Romeo, Giovanni, Abbate, Rosanna, Gensini, Gian Franco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416239/
https://www.ncbi.nlm.nih.gov/pubmed/25903059
http://dx.doi.org/10.1186/s12864-015-1481-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4416239/
https://www.ncbi.nlm.nih.gov/pubmed/25903059
http://dx.doi.org/10.1186/s12864-015-1481-9

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