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Author/Creator Repo, Susanna

1. Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants. Issue 9 (3rd September 2019)

Authors:
Kasak, Laura; Bakolitsa, Constantina; Hu, Zhiqiang; Yu, Changhua; Rine, Jasper; Dimster‐Denk, Dago F.; Pandey, Gaurav; De Baets, Greet; Bromberg, Yana; Cao, Chen; Capriotti, Emidio; Casadio, Rita; Van Durme, Joost; Giollo, Manuel; Karchin, Rachel; Katsonis, Panagiotis; Leonardi, Emanuela; Lichtar...
Editors:
Moult, John; Brenner, Steven E.
Other Names:
Karchin Rachel guestEditor.; Pal Lipika R. specialEditor.
Journal:
Human mutation
Issue:
Volume 40:Issue 9(2019)
Page Start:
1530
Record Type:
Journal Article
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2. Demonstrating public value to funders and other stakeholders—the journey of ELIXIR, a virtual and distributed research infrastructure for life science data. (22nd May 2021)

Authors:
Martin, Corinne S.; Repo, Susanna; Arenas Márquez, Juan; Blomberg, Niklas; Lauer, Katharina B.; Pérez Sitjà, Xènia; Velek, Premysl; Melo, Ana M. P.; Stansberg, Christine; De Leo, Francesca; Griniece, Elina; Rothe, Hannes; Petryszak, Robert; Smith, Andrew
Editors:
FLORIO, MASSIMO
Journal:
Annals of public and cooperative economics
Issue:
Volume 92:Number 3(2021)
Page Start:
497
Record Type:
Journal Article
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3. Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges. Issue 9 (19th June 2017)

Authors:
Cai, Binghuang; Li, Biao; Kiga, Nikki; Thusberg, Janita; Bergquist, Timothy; Chen, Yun‐Ching; Niknafs, Noushin; Carter, Hannah; Tokheim, Collin; Beleva‐Guthrie, Violeta; Douville, Christopher; Bhattacharya, Rohit; Yeo, Hui Ting Grace; Fan, Jean; Sengupta, Sohini; Kim, Dewey; Cline, Melissa; Turne...
Journal:
Human mutation
Issue:
Volume 38:Issue 9(2017)
Page Start:
1266
Record Type:
Journal Article
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4. Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI. Issue 9 (16th May 2017)

Authors:
Carraro, Marco; Minervini, Giovanni; Giollo, Manuel; Bromberg, Yana; Capriotti, Emidio; Casadio, Rita; Dunbrack, Roland; Elefanti, Lisa; Fariselli, Pietro; Ferrari, Carlo; Gough, Julian; Katsonis, Panagiotis; Leonardi, Emanuela; Lichtarge, Olivier; Menin, Chiara; Martelli, Pier Luigi; Niroula, Ab...
Journal:
Human mutation
Issue:
Volume 38:Issue 9(2017)
Page Start:
1042
Record Type:
Journal Article
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7. Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges. Issue 9 (7th July 2017)

Authors:
Daneshjou, Roxana; Wang, Yanran; Bromberg, Yana; Bovo, Samuele; Martelli, Pier L; Babbi, Giulia; Lena, Pietro Di; Casadio, Rita; Edwards, Matthew; Gifford, David; Jones, David T; Sundaram, Laksshman; Bhat, Rajendra Rana; Li, Xiaolin; Pal, Lipika R.; Kundu, Kunal; Yin, Yizhou; Moult, John; Jiang, ...
Journal:
Human mutation
Issue:
Volume 38:Issue 9(2017)
Page Start:
1182
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗