Characterising and Predicting Haploinsufficiency in the Human Genome
Wellcome Sanger Institute · Yonsei University · +1 more institution
Abstract
Haploinsufficiency, wherein a single functional copy of a gene is insufficient to maintain normal function, is a major cause of dominant disease. Human disease studies have identified several hundred haploinsufficient (HI) genes. We have compiled a map of 1,079 haplosufficient (HS) genes by systematic identification of genes unambiguously and repeatedly compromised by copy number variation among 8,458 apparently healthy individuals and contrasted the genomic, evolutionary, functional, and network properties between these HS genes and known HI genes. We found that HI genes are typically longer and have more conserved coding sequences and promoters than HS genes. HI genes exhibit higher levels of expression…
Citation impact
- FWCI
- 16.57
- Percentile
- 100%
- References
- 48
Authors
4Topics & keywords
- Haploinsufficiency
- Biology
- Genetics
- Gene
- Phenotype
- Human genome
- Copy-number variation
- Loss function
- Reduced inequalities