Molecular Biology: Open Access

Li Ma

Publications

• Review Article
  References for Haplotype Imputation in the Big Data Era
  Author(s): Wenzhi Li, Wei Xu, Qiling Li, Li Ma and Qing SongWenzhi Li, Wei Xu, Qiling Li, Li Ma and Qing Song
  
  Imputation is a powerful in silico approach to fill in those missing values in the big datasets. This process requires a reference panel, which is a collection of big data from which the missing information can be extracted and imputed. Haplotype imputation requires ethnicity-matched references; a mismatched reference panel will significantly reduce the quality of imputation. However, currently existing big datasets cover only a small number of ethnicities, there is a lack of ethnicity-matched references for many ethnic populations in the world, which has hampered the data imputation of haplotypes and its downstream applications. To solve this issue, several approaches have been proposed and explored, including the mixed reference panel, the internal reference panel and genotype-converted reference panel. This review article provides the information and comparison between these approa.. Read More»
  DOI: 10.4172/2168-9547.1000143

  Abstract PDF