Related Experiment Video
Updated: Aug 8, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Resources for genetic variation studies
1McGill University and Genome Quebec Innovation Center, Montreal, Quebec H3A 1A4, Canada. david.serre@mail.mcgill.ca
Abstract:
The rapid growth of genome-wide diversity databases, as well as ongoing large-scale resequencing projects targeting genes and other functional components of our genome, provide valuable resources of natural variation at the DNA sequence level. In this review, we briefly summarize the wealth of data on DNA polymorphisms in humans, the distribution of this diversity in the genome as well as among individuals, and the consequence of recombination on its organization. These data provide a set of powerful tools that can be used to better understand inherited phenotypic variation in humans. We discuss the implications for the design of studies investigating correlations between genotypes and phenotypes, both at the fundamental level of genome function and regulation, and for the mapping of disease genes.
More Related Videos
Related Concept Videos
Genetic Variation
Genes exist in different versions called alleles, which...
Mutation, Gene Flow, and Genetic Drift
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Genetic Drift
In vitro Mutagenesis
Gene Flow

