Haplotypes and imputation | Introduction to genomics theory | Genomics101 (beginner-friendly)

We continue the beginner-friendly lecture series introducing basic concepts in #genomics, with a focus on single nucleotide polymorphism (#SNP) data. In this part, we talk about the concept of haplotypes, including an optional short pen and paper exercise to identify haplotype combinations. As a follow-up, we talk about the basic theory behind the genomic #imputation including the possibilities behind it. The imputation of sporadically missing SNPs is explained, as well as imputation from lower to higher density SNP chips.

Playlist with the full videos:    • Introduction to Genomics - course  
All PowerPoint presentations are available at: https://github.com/GenomicsBootCamp/I...

Parts of the video:
0:00 - Summary from previous lectures
0:48 - Haplotypes
5:07 - Phasing
7:16 - Imputation - general definition
8:22 - Imputation of sporadically missing genotypes
9:40 - Imputation between different SNP densities
13:12 - Imputation accuracy and practical use
17:28 - Summary of the lecture

Image source in thumbnail: https://www.pexels.com/photo/starry-s...

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