Article
A comparative analysis of current phasing and imputation software.
PloS one - 1 Jan 2022
De Marino Adriano, Mahmoud Abdallah Amr, Bose Madhuchanda, Bircan Karatuğ Ozan, Terpolovsky Andrew, Bamunusinghe Varuna, Bohn Sandra, Khan Umar, Novković Biljana, Yazdi Puya G
Abstract excerpt
Whole-genome data has become significantly more accessible over the last two decades. This can largely be attributed to both reduced sequencing costs and imputation models which make it possible to obtain nearly whole-genome data from less expensive genotyping methods, such as microarray chips. Although there are many different approaches to imputation, the Hidden Markov Model (HMM) remains the most widely used....
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