Commonalities across computational workflows for uncovering explanatory variants in undiagnosed case...
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
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Author / Creator
Undiagnosed Diseases Network , Krier, Joel B. , Züchner, Stephan , Huang, Alden , Bastarache, Lisa , Bican, Anna , Liu, Pengfei , Adam, Margaret , Alejandro, Mercedes E. , Alvey, Justin , Azamian, Mahshid S. , Bademci, Guney , Baker, Eva , Balasubramanyam, Ashok , Bale, Jim , Beck, Anita , Bennett, Jimmy , Berry, Gerard T. , Bican, Anna , Bohnsack, John , Bonner, Devon , Boyd, Brenna , Brown, Gabrielle , Burrage, Lindsay C. , Butte, Manish J. , Coakley, Terra R. , Cobban, Laurel A. , Cogan, Joy D. , Cole, F. Sessions , Cunningham, Michael , Dorrani, Naghmeh , Doss, Argenia L. , Douine, Emilie D. , Eng, Christine M. , Falk, Marni , Ferreira, Carlos , Findley, Laurie C. , Fogel, Brent L. , Forghani, Irman , Gahl, William A. , Glass, Ian , Godfrey, Rena A. , Hanchard, Neil A. , Hing, Anne , Huryn, Laryssa , Isasi, Rosario , Kiley, Dana , Korrick, Susan , Krakow, Deborah , Lalani, Seema R. , LeBlanc, Kimberly , Liu, Xue Zhong , MacDowall, John , MacRae, Calum A. , Mamounas, Laura A. , Maravilla, Kenneth , Markello, Thomas C. , Martin, Beth A. , Martin, Martin G. , Marwaha, Shruti , McCauley, Jacob , Merritt, J. Lawrence , Might, Matthew , Moretti, Paolo , Murdock, David R. , Nakano-Okuno, Mariko , Nickerson, Deborah , Oglesbee, Devin , Pace, Laura , Pallais, J. Carl , Papp, Jeanette C. , Phillips, John A. , Power, Bradley , Pusey, Barbara N. , Raja, Archana N. , Renteria, Genecee , Rosenwasser, Natalie , Rossignol, Francis , Ruzhnikov, Maura , Sampson, Jacinda B. , Schedl, Timothy , Shin, Jimann , Smith, Edward C. , Sun, Angela , Sutton, Shirley , Sweetser, David A. , Sybert, Virginia , Toro, Camilo , Tucker, Brianna M. , Velinder, Matt , Viskochil, Dave , Wambach, Jennifer , Wang, Lee-kai , Ward, Patricia A. , Wener, Mark , Westerfield, Monte , Whitlock, Jordan , Woods, Jeremy D. , Yamamoto, Shinya , Yang, John and Zein, Wadih
Publisher
New York: Elsevier Inc
Journal title
Language
English
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Publication information
Publisher
New York: Elsevier Inc
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More information
Scope and Contents
Contents
Genomic sequencing has become an increasingly powerful and relevant tool to be leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions. Although the computational tools incorporated into diagnostic workflows for this task are continually evolving and improving, we nevertheless sought to investigate commonalities acr...
Alternative Titles
Full title
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Authors, Artists and Contributors
Author / Creator
Krier, Joel B.
Züchner, Stephan
Huang, Alden
Bastarache, Lisa
Bican, Anna
Liu, Pengfei
Adam, Margaret
Alejandro, Mercedes E.
Alvey, Justin
Azamian, Mahshid S.
Bademci, Guney
Baker, Eva
Balasubramanyam, Ashok
Bale, Jim
Beck, Anita
Bennett, Jimmy
Berry, Gerard T.
Bican, Anna
Bohnsack, John
Bonner, Devon
Boyd, Brenna
Brown, Gabrielle
Burrage, Lindsay C.
Butte, Manish J.
Coakley, Terra R.
Cobban, Laurel A.
Cogan, Joy D.
Cole, F. Sessions
Cunningham, Michael
Dorrani, Naghmeh
Doss, Argenia L.
Douine, Emilie D.
Eng, Christine M.
Falk, Marni
Ferreira, Carlos
Findley, Laurie C.
Fogel, Brent L.
Forghani, Irman
Gahl, William A.
Glass, Ian
Godfrey, Rena A.
Hanchard, Neil A.
Hing, Anne
Huryn, Laryssa
Isasi, Rosario
Kiley, Dana
Korrick, Susan
Krakow, Deborah
Lalani, Seema R.
LeBlanc, Kimberly
Liu, Xue Zhong
MacDowall, John
MacRae, Calum A.
Mamounas, Laura A.
Maravilla, Kenneth
Markello, Thomas C.
Martin, Beth A.
Martin, Martin G.
Marwaha, Shruti
McCauley, Jacob
Merritt, J. Lawrence
Might, Matthew
Moretti, Paolo
Murdock, David R.
Nakano-Okuno, Mariko
Nickerson, Deborah
Oglesbee, Devin
Pace, Laura
Pallais, J. Carl
Papp, Jeanette C.
Phillips, John A.
Power, Bradley
Pusey, Barbara N.
Raja, Archana N.
Renteria, Genecee
Rosenwasser, Natalie
Rossignol, Francis
Ruzhnikov, Maura
Sampson, Jacinda B.
Schedl, Timothy
Shin, Jimann
Smith, Edward C.
Sun, Angela
Sutton, Shirley
Sweetser, David A.
Sybert, Virginia
Toro, Camilo
Tucker, Brianna M.
Velinder, Matt
Viskochil, Dave
Wambach, Jennifer
Wang, Lee-kai
Ward, Patricia A.
Wener, Mark
Westerfield, Monte
Whitlock, Jordan
Woods, Jeremy D.
Yamamoto, Shinya
Yang, John
Zein, Wadih
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8187147
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8187147
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-01084-8
