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Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

The utility of genotype imputation in genome-wide association studies is increasing as progressively larger reference panels are improved and expanded through whole-genome sequencing. Developing general guidelines for optimally cost-effective imputation, however, requires evaluation of performance i...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Pistis, Giorgio, Porcu, Eleonora, Vrieze, Scott I, Sidore, Carlo, Steri, Maristella, Danjou, Fabrice, Busonero, Fabio, Mulas, Antonella, Zoledziewska, Magdalena, Maschio, Andrea, Brennan, Christine, Lai, Sandra, Miller, Michael B, Marcelli, Marco, Urru, Maria Francesca, Pitzalis, Maristella, Lyons, Robert H, Kang, Hyun M, Jones, Chris M, Angius, Andrea, Iacono, William G, Schlessinger, David, McGue, Matt, Cucca, Francesco, Abecasis, Gonçalo R, Sanna, Serena
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4463504/
https://ncbi.nlm.nih.gov/pubmed/25293720
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.216
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