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Progress and challenges in completing the human gene catalogue

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 Pacbio , Human Genome Project , Reference Sequence Database , Matched Annotation , Online Mendelian Inheritance , Cyclin Dependent Kinase Like , Oxford Nanopore Technologies , Pacific Biosciences , Mass Spectrometry ,