Karen Miga, a geneticist at the University of California, Santa Cruz, spearheaded the Telomere-to-Telomere (T2T) consortium to complete the sequencing of the human genome, addressing the previously unsequenced 10% of heterochromatin. The Human Genome Project (HGP) finished a rough draft in 2003, but Miga's focus on highly repetitive DNA regions, particularly near telomeres and centromeres, revealed significant gaps in the original sequencing. This initiative, launched in 2018 with computational biologist Adam Phillippy, marks a pivotal advancement in genomics, providing a comprehensive understanding of human DNA.
PREREQUISITESGeneticists, molecular biologists, researchers in genomics, and anyone interested in the advancements of human genome sequencing and its implications for science and medicine.
Driven by her fascination with highly repetitive, hard-to-read parts of our DNA, Karen Miga led a coalition of researchers to finish sequencing the human genome after almost two decades.
By 2001 the Human Genome Project (HGP) had prepared a rough draft, and in April 2003, the draft sequence was declared finished. But Karen Miga, a geneticist now at the University of California, Santa Cruz and the associate director of the UCSC Genomics Institute, knew that while the work might have wrapped up, the sequencing was far from complete.
The HGP was able to sequence the 90% of human DNA that geneticists call euchromatin, which is loosely folded and contains nearly all of the genes that are actively making proteins. But Miga specialized in heterochromatin, the tightly packed sections of DNA with highly repetitive sequences near the ends (telomeres) and centers (centromeres) of chromosomes. At the time, scientists couldn’t sequence heterochromatin, so despite the celebratory hubbub and champagne toasts, almost 10% of the genome went unsequenced.
Together with Adam Phillippy, a computational biologist at the National Human Genome Research Institute, Miga launched the Telomere-to-Telomere (T2T) consortium in 2018 to finally sequence every last nucleotide of human DNA.