Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads - Shafin, Kishwar; Pesout, Trevor; Chang, Pi-Chuan; Nattestad, Maria; Kolesnikov, Alexey; Goel, Sidharth; Baid, Gunjan; Kolmogorov, Mikhail; Eizenga, Jordan M.; Miga, Karen H.; Carnevali, Paolo; Jain, Miten; et al. (Nature methods, 2021)
Keywords: 631/114/1305; 631/114/2785; 631/1647/794; 631/208/726/649; 631/61/212; Bioinformatics; Biological Microscopy; Biological Techniques; Biomedical and Life Sciences; Biomedical Engineering/Biotechnology; Diploids; DNA sequencing; Genes; Genetic research; Genetic variation; Genome, Human; Genomes; Genomics; Genotyping; Haplotypes; High-Throughput Nucleotide Sequencing - methods; Humans; Identification methods; Life Sciences; Methods; Molecular Sequence Annotation; Nanopores; Nanotechnology; Nucleotide sequencing; Nucleotides; Pipelines; Polymorphism, Single Nucleotide; Proteomics; Sequence Analysis, DNA - methods; Software; Vegetables; United States