Scientists have reconstructed the complete genome of a real person, with full sets of chromosomes from each parent, in a breakthrough expected to advance research and make personalized genomics routine in medical care, Medical Xpress reported August 6. The work from the Telomere-to-Telomere (T2T) Consortium — led by researchers at Johns Hopkins University, the National Human Genome Research Institute and the National Institute of Standards and Technology — establishes the most complete and highest-quality human genome sequence ever constructed.
900 Million New Letters
The team sequenced the HG002 genome, a sample from a living donor widely used as a reference material by the DNA sequencing and diagnostics industries. With near-perfect accuracy, each chromosome now spans from telomere to telomere, revealing 15% more of the genome — including previously inaccessible portions relevant to cancer and neurological disorders. The effort added more than 900 million DNA letters that were absent from prior benchmarks, covering both sex chromosomes and regions containing genes known to affect disease risk. The results are published as part of a 12-paper package in Cell and Cell Genomics, which also includes genome sequencing and analysis for eight additional vertebrate species, including macaque, marmoset and zebra finch.
A New Benchmark for Diagnostics
Current clinical sequencing excludes sequences that are different or missing from the historical reference genome. The new approach allows any individual's unique genome to be fully analyzed at much higher accuracy — a shift the consortium says sets the stage for 'personalized genomics,' where everyone's complete genome sequence could serve as their own reference for medical care. Doctors already use mutations in the BRCA1 and BRCA2 genes to predict breast cancer risk; complete genomes could improve risk prediction for other cancers and complex traits such as heart disease, immune disorders and neuropsychiatric conditions.
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