Curated variation benchmarks for challenging medically relevant autosomal genes - Wagner, Justin; Olson, Nathan D.; Harris, Lindsay; McDaniel, Jennifer; Cheng, Haoyu; Fungtammasan, Arkarachai; Hwang, Yih-Chii; Gupta, Richa; Wenger, Aaron M.; Rowell, William J.; Khan, Ziad M.; Farek, Jesse; et al. (Nature biotechnology, 2022)
Keywords: 631/114/2416; 631/114/2785/2302; 631/208/212/2301; 631/208/514/1948; 631/61/212/2301; Agriculture; Assembly; Benchmarks; Bioinformatics; Biomedical and Life Sciences; Biomedical Engineering/Biotechnology; Biomedicine; Biotechnology; Complexity; Genes; Genome, Human - genetics; Genomes; Haplotypes; Haplotypes - genetics; Humans; Life Sciences; Nucleotides; Reproduction (copying); Sequence Analysis, DNA; Variation