Adam Phillippy - What’s New in the First Truly Complete Sequence of a Human Genome? скачать в хорошем качестве

Adam Phillippy - What’s New in the First Truly Complete Sequence of a Human Genome?

Abstract: In 2022, the Telomere-to-Telomere consortium finished the first truly complete sequence of a human genome. This new reference sequence adds over 200 Mbp of novel sequence including all centromeric satellite arrays, recent segmental duplications, and the short arms of all five acrocentric chromosomes. Dr. Phillippy will provide an overview of what we have learned from these new regions of the genome and highlight ongoing studies that are generating many more reference genomes from a diverse collection of humans and non-human primates. These new references are unlocking the last uncovered regions of the genome to functional and evolutionary studies for the first time. Bio: Dr. Adam Phillippy is a Senior Investigator and head of the Genome Informatics Section at the U.S. National Human Genome Research Institute. His lab develops computational methods for the analysis of DNA sequences, including genome sequencing, comparative genomics, forensics, and metagenomics. He has developed foundational methods for mapping and comparing whole genomes and pioneered the use of single-molecule sequencing for the reconstruction of complete genomes. He is a co-founder of the Telomere-to-Telomere Consortium and led the team that finished the last remaining regions of the human genome. For this work, he was named by TIME magazine as one of 2022’s most influential people. View the Ken Kennedy Institute event calendar: kenkennedy.rice.edu/events