Characterising and predicting haploinsufficiency in the human genome.
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 systemat...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2010-10-01
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| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC2954820?pdf=render |