Conversion of raw sequence data into useful information that concerns the positions of structural genes on each chromosome, the methods by which they are switched on and off, and the functions of their products. Genes whose end products are RNA molecules must also be annotated. The sequence organization of specialized chromosomal regions, like centromeres, replicons, and telomeres, must be worked out. Finally, there is the puzzle of annotating chromosomal sequences that contain repetitive sequences that function somehow to facilitate the shortening of chromosomes during mitotic prophase, their pairing during synaptonemal complex formation, and the condensation of an X chromosome in the somatic cells of mammalian females. See centromere, gene, heterochromatin, insulator DNAs, meiosis, mitosis, repetitious DNA, replicon, selfish DNA, shotgun sequencing, telomere, XIST.
Subjects: Genetics and Genomics.