Genomes and genomics - Obtaining the sequence of a genome - Turning sequence reads into an assembled sequence

5 important questions on Genomes and genomics - Obtaining the sequence of a genome - Turning sequence reads into an assembled sequence

How are genomic sequences obtained? (4 steps)

  1. Break DNA up into thousands or millions of overlapping small segments
  2. Read the sequence of each small segment
  3. Computationally find the overlap among the small segments where their sequences are identical
  4. Continue overlapping ever larger pieces until all the small segments are linked

Building up all of the individual reads into a consensus sequence, a sequence for which there is consensus (or agreement) that it is an authentic representation of the sequence for each of the DNA molecules in that genome.

sequence assembly

What are the goals of sequencing a genome? First, we strive to produce a consensus sequence that is a true and accurate representation of the genome

  1. We strive to produce a consensus sequence that is a true and accurate representation of the genome
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Can one genome sequence truly represent the genome of the entire species?

No,  there are many differences in DNA sequence between different individuals within a species and even between the maternally and paternally contributed genomes within a single diploid individual

Can genome sequences range in quality?

Yes, genomes can range from draft quality (the general outline is there, but there are typographical errors, grammatical errors, gaps, sections that need rearranging, and so forth), to finished quality (a very low rate of typographical errors, some missing sections but everything that is currently possible has been done to fill in these sections), to truly complete (no typographical errors, every base pair absolutely correct from telomere to telomere)

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