Identification of cis-regulatory sequence variations in individual genome sequences View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-10

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. More... »

PAGES

65

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/gm281

DOI

http://dx.doi.org/10.1186/gm281

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1032852217

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21989199


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