Whole genome sequencing

Organisms (Unity and diversity) · Diversity of organisms · note 5 of 5

Whole genome sequencingSpec A3.1.11

In short

Whole genome sequencing is finding the entire base sequence of an organism's DNA. It has become much faster and cheaper: the first human genome took about 13 years, but one can now be sequenced in about a day. It is used to research evolutionary relationships and could in future allow personalised medicine.

Whole genome sequencing means determining the complete base sequence of all the DNA of an organism. The Human Genome Project produced the first human genome sequence, completed in 2003 after about 13 years and at a cost of billions of US dollars.

Since then, automated high-throughput sequencers have given increasing speed and decreasing costs. A human genome can now be sequenced in around a day for roughly a thousand US dollars or less. This means thousands of genomes, from many individuals and species, can be compared.

Uses of whole genome sequencing
UseWhat it involves
Current: research into evolutionary relationshipsComparing whole genomes of different species shows how many base differences separate them, which indicates how closely related they are and when they shared a common ancestor.
Current: research into variation within speciesSequencing many individuals reveals SNPs and links some of them to traits or diseases.
Potential future: personalised medicineA patient's own genome could be used to predict disease risk and to choose the drugs and doses that work best for that person.

Personalised medicine raises issues too: genome data is personal, and knowing a genetic risk can affect insurance, employment and family members.

Exam tip:

For whole genome sequencing, the guide expects three points: speed up and cost down, evolutionary relationships as a current use, and personalised medicine as a possible future use.

Quick check

  1. In a binomial, which part has a capital letter?

    Show answer

    The genus name (first part). The species name is all lowercase.

  2. State the biological species concept.

    Show answer

    A species is a group of organisms that can breed and produce fertile offspring.

  3. How many chromosomes do humans and chimpanzees have?

    Show answer

    Humans 46, chimpanzees 48.

  4. What is a genome?

    Show answer

    All the genetic information of an organism.

Written and checked against the IB Biology SL specification · Updated October 2026

Frequently asked questions

What is the difference between the morphological and biological species concepts?

The morphological concept, used by Linnaeus, groups organisms into a species because they share traits. The biological species concept defines a species as a group of organisms that can breed and produce fertile offspring. The biological concept focuses on interbreeding, so it can separate species that look alike but cannot breed together.

Why is it hard to define a species?

Speciation happens gradually, so diverging populations pass through stages where they are partly different, and deciding whether they are one species or two can be arbitrary. Interbreeding also cannot be tested for fossils or separated populations, and some species produce fertile hybrids, so competing species definitions exist.

What is the evidence that human chromosome 2 formed by fusion?

Its banding pattern matches two chimpanzee chromosomes placed end to end, and it has telomere sequences near its middle, where the ends of two chromosomes joined. It also has the remains of a second, inactive centromere. This supports fusion of two ancestral chromosomes, reducing the number from 48 to 46.

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