Title |
Identification of cis-regulatory sequence variations in individual genome sequences
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Published in |
Genome Medicine, October 2011
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DOI | 10.1186/gm281 |
Pubmed ID | |
Authors |
Rebecca Worsley-Hunt, Virginie Bernard, Wyeth W Wasserman |
Abstract |
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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Unknown | 1 | 50% |
Demographic breakdown
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Scientists | 1 | 50% |
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Unknown | 76 | 99% |
Demographic breakdown
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Researcher | 12 | 16% |
Student > Master | 10 | 13% |
Student > Bachelor | 8 | 10% |
Student > Doctoral Student | 5 | 6% |
Other | 9 | 12% |
Unknown | 11 | 14% |
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Engineering | 3 | 4% |
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Unknown | 14 | 18% |