The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.
Noncoding sequence contains pathogenic mutations. Yet, compared with mutations in protein-coding sequence, pathogenic regulatory mutations are notoriously difficult to recognize. Most fundamentally, we are not yet adept at recognizing the sequence stretches in the human genome that are most importan...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2015-09-01
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Series: | PLoS Genetics |
Online Access: | http://europepmc.org/articles/PMC4557908?pdf=render |