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

doi:10.1038/ejhg.2014.216

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Article

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

European journal of human genetics : EJHG - 1 Jul 2015

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

Abstract excerpt

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 issues that include the relative utility of study-specific compared with general/multipopulation reference panels;...

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PMID: 25293720
DOI: 10.1038/ejhg.2014.216
PMCID: PMC4463504

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