Disease risk
Mind the Gaps
02/04/12 12:26 Filed in: GenomeWeb Daily Scan
Daniel MacArthur and his colleagues' in their recently published Science paper described a systematic survey of loss-of-function variants in human protein-coding genes using data from the 1,000 Genomes Project that revealed that genomes of healthy individuals each contain about 100 LoF [loss-of-function] variants, and approximately 20 of these genes are completely inactivated. S. Pelech comments that while the genomes of healthy people can harbour many defective tumour suppressor genes without any manifestation of cancer, it also likely that they might also have activated oncogenes, which alone are insufficient to induce full neoplastic transformation. He also points out a recent study with 53,666 identical twins in registries from the United States and Europe that showed they had similar risks for 24 different diseases as seen they were when compared to the general population. Read More...