All Episodes
1. Why Genomics?
"Why Genomics?" delves into the concept of heritability and how it relates to studying complex traits like obesity. The document introduces the ACE model, a framework for understanding the influences of additive genetic, common environmental, and non-shared environmental factors on a trait. It explains how twin studies, by comparing monozygotic (identical) and dizygotic (fraternal) twins, can help estimate these components. The document highlights the importance of considering broad-sense heritability, which accounts for all genetic effects, and narrow-sense heritability, which focuses on additive genetic effects. It discusses the limitations of twin models, particularly the assumption of additivity and the potential for confounding environmental factors. Ultimately, the text emphasizes the need for careful consideration of both genetic and environmental influences when studying complex traits.
2. The Human Genome, Annotation, and Variation
This episode explores the complexities of the human genome, focusing on heritability and the evolution of genome annotation. It first examines how heritability, the proportion of variation in a trait attributed to genetics, is not fixed, using type II diabetes and body mass index (BMI) as examples. The text demonstrates how environmental factors, such as diet and obesogenic environments, can significantly influence heritability. The excerpt then delves into the history of human genome sequencing, highlighting the progress from the initial draft in 2001 to the complete telomere-to-telomere sequence in 2022. It stresses the importance of accurate reference genomes for variant calling and pseudogene identification, emphasizing how errors can hinder disease research. Finally, the excerpt discusses the components of the human genome, including repetitive elements and genes, emphasizing the vastness of the genome and the ongoing challenge of comprehensively annotating it.