| Title: | Reference-based phasing using the Haplotype Reference Consortium panel |
| Journal: | Nature Genetics |
| Published: | 3 Oct 2016 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/27694958/ |
| DOI: | https://doi.org/10.1038/ng.3679 |
| URL: | https://europepmc.org/articles/pmc5096458?pdf=render |
| Citations: | 1421 (359 in last 2 years) as of 8 Aug 2024 |
Publication 7547
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Abstract
Po-Ru Loh, Alkes Price and colleagues present Eagle2, a reference-based phasing algorithm that allows for highly accurate and efficient phasing of genotypes across a broad range of cohort sizes. They demonstrate an approximately 10% improvement in accuracy and 20% improvement in speed compared to a competing method, SHAPEIT2.8 Keywords
- Algorithms
- Cohort Studies
- Female
- Genotype
- Haplotypes
- Humans
- Male
- Reference Values
12 Authors
- Po-Ru Loh
- Petr Danecek
- Pier Francesco Palamara
- Christian Fuchsberger
- Yakir A Reshef
- Hilary K Finucane
- Sebastian Schoenherr
- Lukas Forer
- Shane McCarthy
- Goncalo R Abecasis
- Richard Durbin
- Alkes L Price
Enabling scientific discoveries that improve human health