Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
By Bryan N. Howie, Christian Fuchsberger, Matthew Stephens, Jonathan Marchini, Gonçalo R. Abecasis. 2012
1,829 citations recorded by the source corpus.
Subfields: Genetics
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In Genetics
- Alkes L Price
- Sharon R. Browning
- Brian L. Browning
- Gonçalo R. Abecasis
- Po-Ru Loh
- Yingxiao Zhou
- Christian Fuchsberger
- Richard Durbin
Citations in the corpus
- Next-generation genotype imputation service and methods (2016, methodology): “9) by carrying out genotype imputation into 100 individuals of European ancestry using reference panels of 1,091 to 32,390 sequenced individuals ( Table 1 and Online Methods).”
- Robust inference with knockoffs (2018, methodology): “Returning to our genetic example, it has been shown that the joint distribution of SNPs may be accurately modeled by hidden Markov models (see [14, 16, 12, 10] for some early formulations), and there certainly is an abundance of genotype data to estimate the various model parameters; compare for ins”
- Reference-based phasing using the Haplotype Reference Consortium panel (2016, background): “For such cohorts, we expect that cohort-based phasing may remain the preferred option due to ease of execution—although reference sizes are growing, and if the end goal is HRC-based imputation, then we expect that HRC-based pre-phasing [26] will be more convenient.”
- Minimac2: Faster Genotype Imputation (2015, methodology): “Genotype imputation is routinely used to increase the power of genome-wide association studies (GWAS; Howie et al. , 2012; Li et al. , 2009; Marchini et al. , 2007).”
- A one penny imputed genome from next generation reference panels (2018, background): “5k – 10M) and target sample sizes (10-1000) considered.”