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Beyond single-nucleotide polymorphisms: how are large-scale genome sequencing approaches revolutionizing our understanding of inter-individual
Published on Feb 4, 202550 Views
Genome-wide association studies identify links between DNA variations and traits in humans (and other species) of commercial, societal or ecological importance. Traditionally centered on model organis
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Presentation
Beyond single-nucleotide polymorphisms: how are large-scale genome sequencing approaches revolutionizing our understanding of inter-individual diversity?00:00
THE HUMAN GENOME PROJECT00:23
THE HUMAN GENOME IN NUMBERS03:32
WE HAVE A «REFERENCE GENOME». WHAT’S NEXT?08:02
DELINEATING THE NEW FRONTIERS OF HUMAN GENOMICS09:34
THE $1000 GENOME GOAL HAS ALREADY BEEN MET IN 2014 THE 100$ GENOME GOAL MIGHT BE NEXT10:22
AT THE END OF THE DAY, COLLINS WAS A VISIONARY11:27
6000Gb = 2000 times the size of a single human genome In 44 hours12:59
MAPPING HUMAN GENETIC VARIATION TO IMPROVE HUMAN HEALT15:17
TOWARDS THE DEVELOPMENT OF PERSONALIZED PRECISION MEDICINE16:32
BOLD PREDICTIONS FOR HUMAN GENOMICS BY 203018:11
WHAT HAVE WE LEARNED SO FAR ABOUT HUMAN GENETIC VARIATION?20:12
COMPARATIVE GENOMICS COMES HANDY22:00
HOW MUCH DO WE ACTUALLY UNDERSTAND ABOUT THE FUNCTIONAL IMPACT OF INTER-INDIVIDUAL GENETIC VARIABILITY?23:57
HOW CAN WE DISCOVER THE FUNCTION OF UNCHARACTERIZED DNA POLYMORPHISMS?24:34
GWAS: A PRACTICAL EXAMPLE25:38
DO SNPs EXPLAIN ALL INTER-INDIVIDUAL GENETIC VARIABILITY?28:48
LARGE STRUCTURAL VARIANTS: WHY ARE WE NOTICING THEM JUST NOW?29:49
COMPARING GENOMES AT DIFFERENT LEVELS30:42
IS A REFERENCE GENOME ENOUGH?31:44
SHIFTING AWAY FROM THE «REFERENCE GENOME» CONCEPT32:47
THE PANGENOME CONCEPT33:25
THE HUMAN PANGENOME CONSORTIUM34:49
AN OUTLINE OF THE HUMAN PANGENOME PROJECT35:03
THE HUMAN PANGENOME CONSORTIUM – THE FIRST RESULTS35:26
HUMAN PANGENOMICS: A QUICKLY EXPANDING FIELD36:22
AN OVERVIEW ON THE YOUNG HISTORY OF PANGENOMICS37:20
THE ROAD TO THE MUSSEL PANGENOME38:05
WHAT ARE THE BIOLOGICAL IMPLICATIONS OF THE MUSSEL PANGENOME ARCHITECTURE?38:42
OTHER PANGENOME EXAMPLES: EMILIANIA HUXLEYI39:59
OTHER PANGENOME EXAMPLES: FUNGAL PATHOGENS41:11
OTHER PANGENOME EXAMPLES: CROP IMPROVEMENT41:54
AN EXAMPLE OF EVOLUTION IN ACTION: HOST AND PATHOGEN PANGENOMES CAN MUTALLY SHAPE EACH OTHER43:23
Thanks for your attention!45:36
SHIFTING AWAY FROM THE «REFERENCE GENOME» CONCEPT01:04:49