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Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing

Sarah C. Hanks, Lukas Forer, Sebastian Schönherr, Jonathon LeFaive, Taylor Martins, Ryan Welch, Sarah A. Gagliano Taliun, David Braff, Jill M. Johnsen, Eimear E. Kenny, Barbara A. Konkle, Markku Laakso, Ruth F.J. Loos, Steven A. McCarroll, Carlos N. Pato, Michele T. Pato, Albert V. Smith, Michael Boehnke, Laura J. Scott, Christian Fuchsberger

2022The American Journal of Human Genetics31 citationsDOIOpen Access PDF

Topics & Concepts

Imputation (statistics)GenotypingGenetics1000 Genomes ProjectBiologySingle-nucleotide polymorphismIndelMinor allele frequencyGenotypeGenome-wide association studySNP genotypingSNPComputational biologyAllele frequencyWhole genome sequencingGenomeStatisticsMissing dataGeneMathematicsGenetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGenomic variations and chromosomal abnormalities
Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing | Litcius