Telomere-to-Telomere Chromosome Assemblies: New Insights Into Genome Biology and Structure

Explore the groundbreaking advancements in human genome sequencing and assembly in this 28-minute webinar presented by Dr. Karen Miga, co-founder of the Telomere-to-Telomere (T2T) Consortium. Delve into the latest insights on genome biology and structure as Dr. Miga discusses the T2T consortium's v1.0 assembly, which includes over 150 Mbp of novel sequence compared to GRCh38. Learn about the near-perfect sequence accuracy achieved and how it unlocks the most complex regions of the genome for functional study. Discover the custom assembly pipeline for T2T reconstruction, high-resolution maps of human peri/centromeric regions, and comprehensive maps of segmental duplications. Gain knowledge on repeat discovery and classification, T2T methylation profiling with UL Nanopore Data, and how complete (T2T) assemblies will revolutionize genetics and genomics. Understand the importance of collaborative, open science in this field and earn PACE credits by watching the webinar and following the provided instructions.

Intro
Human Reference Genome: Foundational for Genomic Research
Need to generate and analyze complete human genomes
Effectively Haploid Genome
Repeat Assembly
Genome assembly, 2001
Custom assembly pipeline for T2T Reconstruction
Assembly Evaluation: Accurate Repeat Mapping
Accurate Alignments and Variant Calling
The complete sequence of a human genome
Acrocentric Short Arms
High Resolution Maps of Human Peri/Centromeric Regions
Discovery of candidate genes and coding regions
The majority of sequences centromeric regions are defined by collections of satellite arrays
Repeat Discovery and Classification
Comprehensive maps of segmental duplications
T2T Methylation Profiling with UL Nanopore Data
Complete (T2T) Assemblies will Revolutionize Genetics and Genomics
Celebration of collaborative, open science TT