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Title: A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Authors:
; ; ; ; ; ; ; ; ; ; ; ; ; ; ;
Publication Date:
Type:
Published Article
Journal Name:
American Journal of Human Genetics
Additional Journal Information:
Journal Name: American Journal of Human Genetics Journal Volume: 99 Journal Issue: 3; Journal ID: ISSN 0002-9297
Publisher:
Elsevier
Sponsoring Org:
USDOE
Country of Publication:
United States
Language:
English
OSTI Identifier:
1377693

Smedley, Damian, Schubach, Max, Jacobsen, Julius O. B., Köhler, Sebastian, Zemojtel, Tomasz, Spielmann, Malte, Jäger, Marten, Hochheiser, Harry, Washington, Nicole L., McMurry, Julie A., Haendel, Melissa A., Mungall, Christopher J., Lewis, Suzanna E., Groza, Tudor, Valentini, Giorgio, and Robinson, Peter N.. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. United States: N. p., Web. doi:10.1016/j.ajhg.2016.07.005.
Smedley, Damian, Schubach, Max, Jacobsen, Julius O. B., Köhler, Sebastian, Zemojtel, Tomasz, Spielmann, Malte, Jäger, Marten, Hochheiser, Harry, Washington, Nicole L., McMurry, Julie A., Haendel, Melissa A., Mungall, Christopher J., Lewis, Suzanna E., Groza, Tudor, Valentini, Giorgio, & Robinson, Peter N.. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. United States. doi:10.1016/j.ajhg.2016.07.005.
Smedley, Damian, Schubach, Max, Jacobsen, Julius O. B., Köhler, Sebastian, Zemojtel, Tomasz, Spielmann, Malte, Jäger, Marten, Hochheiser, Harry, Washington, Nicole L., McMurry, Julie A., Haendel, Melissa A., Mungall, Christopher J., Lewis, Suzanna E., Groza, Tudor, Valentini, Giorgio, and Robinson, Peter N.. 2016. "A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease". United States. doi:10.1016/j.ajhg.2016.07.005.
@article{osti_1377693,
title = {A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease},
author = {Smedley, Damian and Schubach, Max and Jacobsen, Julius O. B. and Köhler, Sebastian and Zemojtel, Tomasz and Spielmann, Malte and Jäger, Marten and Hochheiser, Harry and Washington, Nicole L. and McMurry, Julie A. and Haendel, Melissa A. and Mungall, Christopher J. and Lewis, Suzanna E. and Groza, Tudor and Valentini, Giorgio and Robinson, Peter N.},
abstractNote = {},
doi = {10.1016/j.ajhg.2016.07.005},
journal = {American Journal of Human Genetics},
number = 3,
volume = 99,
place = {United States},
year = {2016},
month = {9}
}