Fifteen Million Differences Among People—1000 Genomes Project Preliminary Results


What's a few million SNPs between friends?

Today, Nature is publishing the preliminary findings of the 1000 Genomes Project. So far researchers in the project have sequenced 179 individual genomes and have discovered a lot of variation among people, e.g., 15 million single nucleotide polymorphisms (SNPs). SNPs are positions in genomic DNA sequences that vary from one individual to another. SNPs are useful understanding differences in traits among people and for identifying a higher risk of a disease in particular people. As Nature reports:

The long-awaited results from the pilot phase of the first large-scale initiative to sequence individual genomes have identified 95% of the variation found across the human genome and revealed some 15 million gene variants, more than half of which had never been observed before. The data represent the most thorough effort so far to understand the depth of genetic differences between individuals and populations, but the results also highlight the fact that there is still an enormous amount left to learn.

The 1000 Genomes Project, a consortium of researchers from more than 75 universities and companies around the world, two years ago embarked on a mission to catalogue genetic variants — small inter-individual differences in specific regions of the genome — that are found in all human populations. Such differences are quite common, the results of the survey revealed, with each person's genome carrying some 250 or 300 so-called 'loss-of-function' mutations that incapacitate the gene in which they occur.

"That's quite a lot — it's on the order of 1% of all genes," says Richard Durbin, a genomicist at the Wellcome Trust Sanger Institute in Hinxton, UK, and one of the chief architects of the project.

The project aims to eventually sequence the genomes of 2,500 different people drawn from populations all around the world. Nature estimates that some 2,700 human genomes will have been sequenced by the end of this month, rising to 30,000 by the end of next year. In a similar vein, Harvard University geneticist George Church and colleagues are organizing the Personal Genome Project which aims to supply the genomic and phenotypic information of 100,000 volunteers to researchers.

Freeing up genetic information will help advance biomedicine and aid individuals in making choices about their health and lives. See my column, Regulating Personal Genomics to Death, on the FDA's recent efforts to stymie the personal genomics revolution.

Disclosure: I have been accepted as a volunteer in the Personal Genome Project.

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  1. And to think I am still superior to all of you…

  2. Disclosure: I have been accepted as a volunteer in the Personal Genome Project.

    Hopefully they can isolate the scientific gullibility gene.

    1. My concern is that they’er robbing him of his essence.

      1. damn skeksis.

        1. Gelfling?!? Where?

    2. Scientific gullibility? Idiot.

    3. “Scientific gullibility?” Idiot.

    4. scientific gullibility


  3. Speaking of science, H&R lovers, get ready for another flame war with the usual gang of anti-Stossel nitwits, tomorrow, when Reason publishes his latest:

    Plastic Water Bottles Won’t Hurt You

    “Canada has announced it will ban the chemical bisphenol A — known as BPA — which is used to make plastic water and baby bottles.

    The head of the Canadian environmental group Environmental Defence is thrilled:

    “Kudos to the federal government. … We look forward to seeing BPA legally designated as ‘toxic’ as soon as possible.”

    But the evidence doesn’t actually show that BPA is toxic. Europe’s equivalent of the FDA concluded: “(T)he data currently available do not provide convincing evidence of neurobehavioral toxicity.”

    So sharpen your wits, and have fun. Tony and Chad are most likely salivating in anticipation, right now.

    1. The head of the Canadian environmental group Environmental Defence is thrilled:

      “Kudos to the federal government. … We look forward to seeing BPA legally designated as ‘toxic’ as soon as possible.”

      I’m sure the lawyers are salivation in anticipation.

  4. Darwin’s Radio comes closer to reality*!

    * it’s actually a pretty interesting book

    1. I was thinking more along the lines of The Bell Curve.

      1. I actually read this one a few years after publication, mostly because it was so politically incorrect to do so.

    2. sounds intersting.

  5. There is no obvious vested industry interest in this research, so I can believe in it.

    1. douche. You got that part right.

  6. Disclosure: I have been accepted as a volunteer in the Personal Genome Project.

    Me too. It’s like they’ll take anyone.

  7. Gattica for a trip to Titan? Hmm. Suck it, left behinders!

    1. GATTACA.

      There is no “I” in the genetic alphabet.

      1. genetIc alphabet


        1. My error correction is way cooler then your pseudo error correction.

          Wind Rider probably didn’t even know GATTACA was spelled with the genetic alphabet…plus the awesome double meaning.

          1. Guys, there’s no “i” in “TEAM”! So let’s go out there and win one for the…double helix…or something!

  8. On the order of 1% of all genes show a knockout mutation. Well, there’s a pretty powerful argument against inbreeding….

    1. It works for lions.

  9. SHHHHHHHHH!~ Andy Griffith is on TV saying medicare is good!

    We need to get him into the project to determine what genetic components make so many people live past their “Best If Used By:” dates…

  10. I wash my genes once a week whether they need it or not.

  11. We don’t need no stupid scientists tryin’ to play God! There are things man was not mean to know!

  12. I slogged through the application for the Personal Genome Project yesterday. It is a relatively difficult process, they actually make you learn the basics of genetics; the nerve! Now I have to wait months to see if my DNA is fit to be studied.

  13. Woo hoo, I have been accepted as a volunteer in the PGP, so take that, Ron Bailey!

    After thinking about it, the PGP will not be a representative sample of man kind. The application is relatively difficult: you have to understand genetics, you have to be able to read, you have to comprehend a set of “ethical dilemnas” posited by the researchers. The only people who will qualify as volunteers are going to be educated, intelligent, and determined; that excludes about 90% of the world’s population.

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