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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
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