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. Sequencing broadly among people from many backgrounds will help describe the world’s genetic diversity and home in on important genetic variations, he said.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. He also plans to sequence genetic code with both paternal and maternal chromosomes. Phillippy said his next goal is to streamline the sequencing process to make it cheaper, more efficient and broadly available. “I’m more excited about what we don’t know and the opportunities for discovery,” Miga said. “The things that make our frontal cortex bigger come from the genes that map in these repetitive regions,” said Evan Eichler, a professor in the department of genome sciences at the University of Washington School of Medicine and also part of the research collaborative.Īdvances in genomic sequencing technology could drive a renaissance of medical breakthroughs, the researchers say. Until now, “we’ve been hampered because we haven’t had a reference sequence.”įurther study of newly-sequenced portions of the genome could also help scientists better understand how humans evolved particular traits, such as the bigger brains that sent them down a genetically distinct path from their great ape ancestors. “Centromere dysfunction can be a serious driver in cancer,” Henikoff said. Sliced into pieces, it is difficult to know where each strand came from, so scientists must “stitch that DNA together in a computational way,” Dennis said. Then, it gets processed and read bit by bit. From lines to pagesĪssembling a genome is akin to “taking a book, ripping it up into tiny pieces and matching it together again,” said Megan Dennis, an assistant professor who studies human genetics and genomics at UC Davis Health, who contributed to the sequencing effort.įirst, researchers must chop the DNA up into short fragments. “It’s a landmark,” said Steve Henikoff, a molecular biologist and a professor at the Fred Hutchinson Cancer Research Center and the University of Washington, who was not involved in the project. This legwork could one day assist researchers in identifying the genetic causes of disorders, untangling the mysteries of what drives some cells to become cancerous and help explain how different groups of people developed different traits over time, such as the ability to thrive at high altitude.
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