Curated variation benchmarks for challenging medically relevant autosomal genes
Wagner J, Olson N, Harris L, McDaniel J, Cheng H, Fungtammasan A, Hwang Y, Gupta R, Wenger A, Rowell W, Khan Z, Farek J, Zhu Y, Pisupati A, Mahmoud M, Xiao C, Yoo B, Sahraeian S, Miller D, Jáspez D, Lorenzo-Salazar J, Muñoz-Barrera A, Rubio-Rodríguez L, Flores C, Narzisi G, Evani U, Clarke W, Lee J, Mason C, Lincoln S, Miga K, Ebbert M, Shumate A, Li H, Chin C, Zook J, Sedlazeck F. Curated variation benchmarks for challenging medically relevant autosomal genes. Nature Biotechnology 2022, 40: 672-680. PMID: 35132260, PMCID: PMC9117392, DOI: 10.1038/s41587-021-01158-1.Peer-Reviewed Original ResearchConceptsWhole-genome assemblyRelevant genesAutosomal genesLong-read technologiesSingle-nucleotide variationsVariant recallBottle ConsortiumWhole genomeSingle-nucleotidePolymorphic complexFalse duplicationsGenesGRCh38GRCh37GenomeStructural variationsRepetitive natureDuplicationAssemblyDeletionCRYAAVariantsClinical settingCBSComplex
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