AQA · A-Level · Biology

    Course version: 7402 · Version from Sept 2016

    Sequencing methods are continuously updated and have become automated.

    Full specification wording

    Using genome projects (A-level only): Sequencing methods are continuously updated and have become automated.

    Early sequencing was slow and done largely by hand: the chain-termination method read a few hundred bases at a time, and the first human genome took more than a decade and enormous expense.

    Checked against the AQA 7402 specification (opens in a new tab) on .

    • Point 5 of 5
    • 3 key terms

    Study notes

    From the checked teaching notes for this specification point.

    The idea

    Early sequencing was slow and done largely by hand: the chain-termination method read a few hundred bases at a time, and the first human genome took more than a decade and enormous expense. Modern high-throughput methods are automated. The DNA is broken into very large numbers of small fragments, these are sequenced in parallel by machines that detect fluorescently labelled bases as each is added, and computer software then finds the overlaps between reads and assembles them back into the complete sequence. The consequences matter more than the chemistry: whole genomes can now be sequenced in hours rather than years, at a tiny fraction of the original cost, and with fewer human errors because the reading is done by machine.

    What earns the marks

    • Sequencing now being automated, carried out by machines rather than by hand.
    • The DNA being cut into many fragments that are sequenced at the same time and reassembled by computer.
    • The consequence being that sequencing is faster and cheaper, with fewer errors.
    • An application made possible, such as DNA or base sequencing evidence leading to species being reclassified or renamed.
    • Whole genomes of individuals being sequenced, allowing screening and personalised medicine.

    Common mistakes and how to put them right

    • Writing that modern methods sequence the protein, when sequencing reads the order of DNA bases.

    • Answering only 'it is automated' when the question asks for an advantage, so never stating faster, cheaper or more accurate.

    • Claiming a machine reads a whole chromosome in one pass, with no fragmentation or reassembly step.

    • Confusing DNA sequencing with genetic fingerprinting, which compares fragment lengths and never reads bases.

    • Saying improved technology changed the genetic code rather than our ability to read it.

    Exam tips

    • Advantages need a comparison - faster than what, cheaper than what - so name the old method or the old timescale.
    • Link automation to a biological consequence; the mark is rarely for the technology on its own.
    • If a question asks why a classification has been revised, name the evidence precisely - base sequencing scores, and so does electron microscopy of greater resolution or improved staining, so do not cross a microscopy answer out.

    Try the lesson

    The start of the Using genome projects (A-level only): Sequencing methods are continuously updated and have become automated. lesson, made from checked teaching notes for this specification point.

    Have a go first

    What has happened to DNA sequencing methods over time?

    Listen

    Early sequencing was slow and done largely by hand: the chain-termination method read a few hundred bases at a time, and the first human genome took more than a decade and enormous expense. Modern high-throughput methods are automated. The DNA is broken into very large numbers of small fragments, these are sequenced in parallel by machines that detect fluorescently labelled bases as each is added, and computer software then finds the overlaps between reads and assembles them back into the complete sequence. The consequences matter more than the chemistry: whole genomes can now be sequenced in hours rather than years, at a tiny fraction of the original cost, and with fewer human errors because the reading is done by machine. A strong answer earns marks for these points. sequencing now being automated, carried out by machines rather than by hand. the DNA being cut into many fragments that are sequenced at the same time and reassembled by computer. the consequence being that sequencing is faster and cheaper, with fewer errors. an application made possible, such as DNA or base sequencing evidence leading to species being reclassified or renamed. Exam tip: Advantages need a comparison - faster than what, cheaper than what - so name the old method or the old timescale.

    See it

    A top-to-bottom flowchart. The first box states that DNA is broken into very large numbers of small fragments. An arrow leads to a second box: fragments are sequenced in parallel by machines. An arrow leads to a third box: machines detect fluorescently labelled bases as each is added. An arrow leads to a fourth box: computer software finds overlaps between reads. An arrow leads to a fifth box: reads are assembled back into the complete sequence. From this fifth box three arrows lead to three outcome boxes: whole genomes sequenced in hours rather than years; sequencing at a tiny fraction of the original cost; and fewer human errors because reading is done by machine.
    The automated sequencing process, from fragmenting DNA to reassembling the complete sequence, and the consequences that follow.

    Key words

    Say what each word means before you turn the card.

    automated sequencing

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    high-throughput methods

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    fragment assembly

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    See every definition
    automated sequencing
    Sequencing carried out by machines rather than by hand, with methods that are continuously updated.
    high-throughput methods
    Modern automated methods in which very large numbers of small DNA fragments are sequenced in parallel by machines.
    fragment assembly
    Computer software finds the overlaps between reads and assembles them back into the complete sequence.

    Label the diagram

    Some boxes have lost their names. Pick the right name for each number.

    The diagram again, with 3 boxes numbered instead of named. A top-to-bottom flowchart. The first box states that DNA is broken into very large numbers of small fragments. An arrow leads to a second box: fragments are sequenced in parallel by machines. An arrow leads to a third box: machines detect fluorescently labelled bases as each is added. An arrow leads to a fourth box: computer software finds overlaps between reads. An arrow leads to a fifth box: reads are assembled back into the complete sequence. From this fifth box three arrows lead to three outcome boxes: whole genomes sequenced in hours rather than years; sequencing at a tiny fraction of the original cost; and fewer human errors because reading is done by machine.
    • 1Box 1

    • 2Box 2

    • 3Box 3

    0 of 3 labelled

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