![]() ![]() “Our results all point to the possibility that as a man ages, the number of hereditary mutations in his sperm increases, and the chance that a child would carry a deleterious mutation that could lead to diseases such as autism and schizophrenia increases proportionally,” said Dr. They also identified two genes, CU元 and EPHB2, with mutations in an autism patient subgroup. Also, when specifically examining the genomes of families with autism and schizophrenia, the authors identified in offspring mutations in genes previously implicated in the diseases. The average age of the father in the study was 29.7 years old. On average, the investigators found a two mutation per-year increase in offspring with each one-year increase in age of the father. The team also sequenced the genomes of an additional 1,859 Icelanders, providing a larger comparative population. To better understand the cause of new hereditary mutations, the deCODE team sequenced the genomes of 78 Icelandic families with offspring who had a diagnosis of autism or schizophrenia. Stefansson continued, “With the results here, it is now clear that demographic transitions that affect the age at which males reproduce can have a considerable impact on the rate of certain diseases linked to new mutation.” ![]() “Strikingly, this study found that a father’s age at the time a child is conceived explains nearly all of the population diversity in new hereditary mutations found in the offspring,” said study lead author Kari Stefansson, M.D., Dr. The findings come from the largest whole genome sequencing project to examine associations of diseases with rare variants in the genome. Scientists at deCODE genetics are determined to work towards more ethnically balanced sequencing cohorts in the future.DeCODE Genetics in collaboration with Illumina has reported in the journal Nature that a father’s age, not a mother’s, at the time a child is conceived is the single largest contributor to the passing of new hereditary mutations to offspring. However, the imbalance in the ethnic mix of those contributing sequences to this study as well as to other studies already published is unfortunate from both societal and scientific point of views. This study is likely to represent the largest set of whole genome sequenced individuals of African and South-Asian origin. The scientists also found a large group of participants who can trace their ancestry mostly to Africa and South Asia. The scientists determined that 85% of the participants could trace most of their ancestry to the British Isles. Participants in the UK biobank are of diverse genetic ancestry and have forefathers from most of the countries of the world. Credit: deCODE geneticsįurthermore, scientists at deCODE also report on the association of variants that were not identified through whole exome sequencing with diseases and other phenotypes. Halldorsson discuss the first report from the world's most ambitious sequencing project. "Data of this type and quantity are going to revolutionize our ability to identify and characterize intergenic sequences of importance to human diversity, be it to risk of disease and response to treatment or some other attributes," said Kari Stefansson the founder of deCODE and one of the authors of the paper.ĭr. However, when the 1% of the genome with sequences that are best conserved are examined only 13% of them are coding exons. It has long been held that coding exons are the regions most important to human survival. The assumption is that regions that are intolerant to sequence diversity are important to human survival and procreation. This large dataset allowed the scientists to separate regions that are tolerant to large diversity in sequence from those that are not. It is however likely that some of the theoretically possible variants are incompatible with life. The scientists at deCODE genetics found 600 millions SNPs and indels in these 150 thousand genomes corresponding to 7% of those that can theoretically occur in the human genome. This is the first report from the largest whole genome sequencing effort to date where scientists from deCODE genetics and from the Wellcome Trust Sanger Institute are set to sequence 500 thousand whole genomes in three years. ![]()
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