10,000 genome deep-dive with Craig Venter
Sequencing just got serious deep and meaningful. In a new study, pre-published on bioRxiv, a team from the JCVI and Human Longevity have performed what appears to be the most in-depth look at the human genome to date. 10,545 genomes were mined for minute individual differences, and regions where mutations could lead to disease.
“Our work represents the largest effort to date in sequencing human genomes at deep coverage with these new standards,” the study stated. “This study identifies over 150 million human variants, a majority of them rare and unknown.”
Each of the 10,000 genomes was sequenced 30 to 40 times to reduce errors, which Venter and his fellow authors believe is enough for medical-grade sequencing. The authors managed to sequence 84% of the genome with confidence, giving them a detailed picture of around 92.5% of known disease-causing variations. The study also identified over 8,000 previously unknown variants, and that each genome carried around 0.7Mb of sequence that is not found in the standard human reference genome.