Identification of cis-regulatory sequence variations in individual genome sequences
Functional contributions of cis-regulatory sequence variations to human genetic disease are numerous. For instance, disrupting variations in a HNF4A transcription factor binding site upstream of the Factor IX gene contributes causally to hemophilia B Leyden. Although clinical genome sequence analysi...
| Main Authors: | , , |
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| Format: | Online |
| Language: | English |
| Published: |
BioMed Central
2011
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3239227/ |