Chapter 5 Sequence Assembly: Assembling the Human Genome

Figure 5.1: The 23 sets of chromosomes in the human genome Courtesy of National Cancer Institute

Figure 5.2: (A) A normal deoxycytosine nucleotide used in DNA synthesis, and (B) a dideoxycytosine that would cause chain termination

Figure 5.3: A dideoxy sequencing reaction

Figure 5.4: Primer walking or directed sequencing of a genomic insert in a BAC vector

Figure 5.5: Shotgun sequencing

Figure 5.6: A DNA trace and computer-called base sequence: typical output from an automated sequencing run

Figure 5.7: Sample output from the CAP assembler

Figure 5.8: Assembly of overlapping DNA sequence fragments into a contig, showing how coverage can allow error correction

Figure 5.9: Schematic illustration of the sequence assembly and validation process

Figure 5.10: Graph of coverage values for each base position in a DNA sequence, with consecutive, high values indicating the possible misassembly of a repeated region

Figure 5.11: Graph representing overlaps between fragments as paths between nodes

Figure 5.12: Steps in finding a path to a sequence alignment