Science Friday 65 Genomes Expand Our Picture Of Human Genetics
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Aug 5, 2025 In this discussion, Adam Philippy, a Senior Investigator at the NIH's National Human Genome Research Institute, delves into groundbreaking genomic research. He highlights a study of 65 diverse human genomes, revealing key insights about genetic diversity and complex genomic regions. The importance of non-coding DNA, often dismissed as 'junk,' is explored for its role in gene regulation. Philippy also discusses advancements in AI-driven genetic predictions, revolutionizing how we understand disease associations and genetic mutations.
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Complete Genomes Reveal New Variation
- Researchers assembled complete genome sequences of 65 diverse humans worldwide including challenging repetitive regions.
- They resolved about 1,200 centromeres for the first time, revealing functional genetic variation.
Maximizing Genetic Diversity Discovered
- The 65 individuals sequenced were selected from the Thousand Genomes Project to maximize novel DNA variation.
- This approach uncovered extensive previously unknown variation in complex, repetitive genome regions.
Hundreds of Thousands of Variants Found
- The newly sequenced genomes revealed over 188,000 structural variants larger than 50 base pairs between individuals.
- This is a substantial increase compared to previous studies, highlighting newfound genetic diversity.