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A group of authors reviewed the progress and challenges in annotating the human genome, including protein-coding genes, isoforms, and non-coding RNAs, and advocated for a universal annotation standard for clinical use.

Pacific biosciences pacbioHuman genome projectReference sequence databaseMatched annotationOnline mendelian inheritanceCyclin dependent kinase likeOxford nanopore technologiesPacific biosciencesMass spectrometry