Massive Exome Study Reveals 7.4 Million Genetic Variants

Using a massive exome sequencing database, researchers have identified millions of genetic variants for further study.

AsianScientist (Aug. 23, 2016) – Researchers in Australia and the US have sequenced the exomes of over 60,000 individuals with diverse geographic ancestries, including European, African, South Asian, East Asian and Latino populations, to reveal patterns of genetic variation worldwide. The work was published in Nature.

Exome sequencing is a method for sequencing a subset of the human DNA genome that encodes proteins, known as exons. Humans have about 180,000 exons, constituting about one percent of the human genome. Considering that each exome contains about 13,500 single nucleotide variants, it is a daunting task for researchers is to distinguish variants that are pathogenic from those that have little or no detectable clinical effects.

Co-led by first author Dr. Monkol Lek of the University of Sydney, the research team used a massive exome sequencing database to identify around 7.4 million genetic variants, providing unprecedented resolution into low-frequency protein-coding variants in human populations.

The database was made available through the Exome Aggregation Consortium, which cataloged exome data from 60,706 unrelated individuals sequenced from numerous disease-specific and population genetic studies.

Investigating further, the authors analyzed 192 pathogenic variants that were linked to previous studies, finding only nine with sufficient data supporting a conclusion that these variants had a strong disease association.

“Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes,” said Lek. “This analysis reveals global patterns of genetic variation providing resolution that hasn’t been possible with smaller data sets of genetic variation.”



The article can be found at: Lek et al. (2016) Analysis of protein-coding genetic variation in 60,706 humans.

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Source: University of Sydney; Photo: Shutterstock.
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