Reply to Brunet and Doolittle: Both selected effect and causal role elements can influence human biology and disease

Kellis, M., Wold, B., Snyder, M. P., Bernstein, B. E., Kundaje, A., Marinov, G. K., Ward, L. D., Birney, E., Crawford, G. E., Dekker, J., Dunham, I., Elnitski, L. L., Farnham, P. J., Feingold, E. A., Gerstein, M., Giddings, M. C., Gilbert, D. M., Gingeras, T. R., Green, E. D., Guigo, R., Hubbard, T., Kent, J., Lieb, J. D., Myers, R. M., Pazin, M. J., Ren, B., Stamatoyannopoulos, J., Weng, Z., White, K. P., Hardison, R. C. (August 2014) Reply to Brunet and Doolittle: Both selected effect and causal role elements can influence human biology and disease. Proceedings of the National Academy of Sciences of the United States of America, 111 (33). E3366-E3366. ISSN 10916490 (ISSN)

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URL: https://www.ncbi.nlm.nih.gov/pubmed/25275169
DOI: 10.1073/pnas.1410434111

Abstract

We agree with Brunet and Doolittle (1) on the utility of distinguishing the evolutionarily selected effects (SE) of some genomic elements from the causal roles (CR) of other elements that lack signatures of selection (1–4). DNA sequences identified by biochemical approaches include both SE and CR elements, and genetic variation in both has been implicated in human traits and disease susceptibility. We thus view the Encyclopedia of DNA Elements (ENCODE) catalog and similar data resources as important foundations for understanding the DNA elements and molecular mechanisms underlying human biology and disease.

Item Type: Paper
Subjects: bioinformatics
diseases & disorders
bioinformatics > computational biology
organism description > animal > mammal > primates > hominids > human
CSHL Authors:
Communities: CSHL labs > Gingeras lab
Depositing User: Matt Covey
Date: 19 August 2014
Date Deposited: 16 Sep 2014 16:08
Last Modified: 20 Dec 2017 21:12
PMCID: PMC4143047
Related URLs:
URI: http://repository.cshl.edu/id/eprint/30791

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