Article
Non-Coding Loss-of-Function Variation in Human Genomes.
Human heredity - 1 Jan 2016
Zappala Zachary, Montgomery Stephen B
Abstract excerpt
Whole-genome and exome sequencing in human populations has revealed the tolerance of each gene for loss-of-function variation. By understanding this tolerance, it has become increasingly possible to identify genes that would make safe therapeutic targets and to identify rare genetic risk factors and phenotypes at the scale of individual genomes. To date, the vast majority of surveyed loss-of-function variants are...
Topics
- DNA, Intergenic
- Exome
- Genetic Variation
- Genetics, Population
- Genome, Human
- Genomics
- Humans