期刊
GENOME MEDICINE
卷 3, 期 -, 页码 -出版社
BMC
DOI: 10.1186/gm281
关键词
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资金
- National Institutes of Health (USA) [1R01GM084875]
- Canadian Institutes for Health Research
- National Science and Engineering Research Council (NSERC)
- Canadian Institutes of Health Research
- Michael Smith Foundation for Health Research
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [R01GM084875] Funding Source: NIH RePORTER
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 analysis currently focuses on the identification of protein-altering variation, the impact of cis-regulatory mutations can be similarly strong. New technologies are now enabling genome sequencing beyond exomes, revealing variation across the non-coding 98% of the genome responsible for developmental and physiological patterns of gene activity. The capacity to identify causal regulatory mutations is improving, but predicting functional changes in regulatory DNA sequences remains a great challenge. Here we explore the existing methods and software for prediction of functional variation situated in the cis-regulatory sequences governing gene transcription and RNA processing.
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