Category: Genome

  • Complete, gapless human genome sequence published

    Complete, gapless human genome sequence published

    The T2T consortium have published the first complete, gapless sequence of a human genome, two decades after the Human Genome Project produced the first draft human genome sequence. Having a complete, gap-free sequence of the roughly 3 billion bases in our DNA is critical for understanding the full spectrum of human genomic variation and for…

  • Fast, scalable software analyzes the human genome

    Fast, scalable software analyzes the human genome

    Peter White at Nationwide Children’s Hospital has developed Churchill,  software that searches raw sequence data on a person’s genome for disease-causing variations in hours, not weeks.  He believes that large scale analysis across populations is now possible. In tests, Churchill analyzed a whole genome sequence in 90 minutes from a raw FASTQ text-based format through to…