Chapter 4.4: Lecture Notes in Gen...

Chapter 4.4: Lecture Notes in Genome Bioinformatics

Lecture Notes in Genome Bioinformatics por Prof. Subhashini Srinivasan
15 sept 2026
21:54

Notas del episodio

Resequencing refers to sequencing the genomes of multiple individuals from a species for the purpose of identifying genetic variation by comparing their sequences with an already assembled reference genome of that species. Unlike de novo genome assembly, resequencing does not require reconstructing the entire genome from scratch. Instead, sequencing reads are aligned to the reference genome, and differences such as SNPs, small insertions and deletions (indels), structural variants, and copy-number variations can be identified.

The availability of a high-quality reference genome dramatically reduces the computational and sequencing effort required to study genetic diversity across individuals and populations. Resequencing has therefore become one of the most powerful applications of NGS, particularly for species in which a reference genome is already available.

Palabras clave

Varinat calling, bowtie, Burrow-wheeler transcform, rare disease, population genomics

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