Advancing long-read de novo genome assembly methods in clinical research
The Telomere-to-Telomere (T2T) Consortium has finished the first truly complete 3.055 billion base pair (bp) sequence of a human genome, representing the largest improvement to the human reference genome since its initial release. The new T2T-CHM13 reference includes gapless assemblies for all 22 autosomes, plus chromosomes X and Y, corrects numerous errors, and introduces nearly 200 million bp of novel sequence. The newly completed regions include all centromeric satellite arrays and the short arms of all five acrocentric chromosomes, unlocking these complex regions of the genome to variational and clinical research for the first time.
Satellite DNAs, which contribute to the majority of newly introduced sequences, contribute to centromere function and chromosomal aneuploidies and are critical to proper cell function. Mitotic errors in cancer cells are a common feature of tumors and hematological malignancies and are often associated with the proper regulation of centromeres, which can now be studied at the base level. Long-read sequencing technologies provide potential improvements on the cost and detection of genetic variants relative to existing methods, allowing researchers to expand clinical research to study genomes comprehensively.
In this webinar, Karen Miga, co-founder of the T2T Consortium and assistant professor of biomolecular engineering at the University of California, Santa Cruz, discussed her team’s work using nanopore sequencing to broaden studies of clinically important variants in T2T genomes.
Meet the speaker
Dr. Miga is an Assistant Professor in the Biomolecular Engineering Department at University of California, Santa Cruz (UCSC), and an Associate Director of the UCSC Genomics Institute. In 2019, she co-founded the Telomere-to-Telomere (T2T) Consortium, an open, community-based effort to generate the first complete assembly of a human genome. Additionally, Dr. Miga is the Director of the Reference Production Center for the Human Pangenome Reference Consortium (HPRC).