Icelandic genome offers clues to human diversity, gene-disease links

Scientists who sequenced the entire genomes of 2,636 people in Iceland have produced a trove of information about the nature, location, and frequency of human genetic variations.

The new research not only sheds light on the range of human genetic variability; it helps equip researchers to draw more direct lines between genes and diseases.

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FOR THE RECORD

A previous version of this story said the director of the Genetic Variation Program at the National Human Genome Research Institute was Linda D. Brooks. She is Lisa D. Brooks.

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In a package of articles published Wednesday in the journal Nature Genetics, a private consortium of researchers found genetic abnormalities long thought to doom their host to early death to be more common than has been believed. They also discovered new genetic contributors to such varied afflictions as Alzheimer's disease, liver disease and atrial fibrillation.

The effort, underwritten by Amgen's DeCode Genetics, a biopharmaceutical company based in Reykjavik, Iceland, offers scientists insight to the human genome that will expand their ability to investigate the genetic bases of human diseases.

By sequencing the full genomes of more than 2,500 Icelanders and comparing the results with less extensive genotype data from more than 104,000 other Icelanders, the teams identified more than 20 million genetic variants in the Icelandic population.

They then cross-checked that information against Iceland's extensive genealogical and healthcare information records, which would document diagnoses, chronicle treatment response and allow researchers to see how a single disease might run through generations of a given family.

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Icelandic genome offers clues to human diversity, gene-disease links