The complete sequence of a human genome

About this Class

Dr. Adam Phillippy, a Senior Investigator at NHGRI will give an extremely interesting talk on Monday, 5/24 at 11 am via WebEx at https://nih.webex.com/nih/j.php?MTID=m237a8e77868c23cc4e8b31120408c54c.  Dr. Phillippy’s work is going to have tremendous impacts on studies of human diseases in next 10-20 years.  Please feel free to forward the WebEx link to your NIH colleagues. Abstract: In 2001, Celera Genomics and the International Human Genome Sequencing Consortium published their initial drafts of the human genome, which revolutionized the field of genomics. While these drafts and the updates that followed effectively covered the euchromatic portion of the genome, the heterochromatin and many other complex regions were left unfinished or erroneous. Addressing this remaining 8% of the genome, 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 addition of bases to the human reference genome since its initial release. The new T2T-CHM13 reference includes gapless assemblies for all 22 autosomes plus chromosome X, corrects numerous errors, and introduces nearly 200-million bp of novel sequence containing 2,226 paralogous gene copies, 115 of which are predicted to be protein coding. 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 functional studies for the first time.   Bio: Dr. Adam Phillippy is a Senior Investigator and head of the Genome Informatics Section at the National Human Genome Research Institute. His lab develops foundational methods for genomics, focusing specifically on the problems of genome sequencing, assembly, and comparative genomics. As a co-founder of the Telomere-to-Telomere consortium, he is currently developing new methods for the complete and gapless assembly of human genomes using long-read sequencing technologies. His lab homepage can be found at https://genomeinformatics.github.io/   WebEx link: https://nih.webex.com/nih/j.php?MTID=m237a8e77868c23cc4e8b31120408c54c Meeting number (access code): 126 491 0151 Meeting password: 3rPb6mtdcQ8