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: | Worsley-Hunt, Rebecca, Bernard, Virginie, Wasserman, Wyeth W |
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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/ |
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