Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project ; volume:18 ; number:1 ; day:29 ; month:4 ; year:2024 ; pages:1-25 ; date:12.2024
Human genomics ; 18, Heft 1 (29.4.2024), 1-25, 12.2024
- Creator
-
Stenton, Sarah L.
O’Leary, Melanie C.
Lemire, Gabrielle
VanNoy, Grace E.
DiTroia, Stephanie
Ganesh, Vijay S.
Groopman, Emily
O’Heir, Emily
Mangilog, Brian
Osei-Owusu, Ikeoluwa
Pais, Lynn S.
Serrano, Jillian
Singer-Berk, Moriel
Weisburd, Ben
Wilson, Michael W.
Austin-Tse, Christina
Abdelhakim, Marwa
Althagafi, Azza
Babbi, Giulia
Bellazzi, Riccardo
Bovo, Samuele
Carta, Maria Giulia
Casadio, Rita
Coenen, Pieter-Jan
De Paoli, Federica
Floris, Matteo
Gajapathy, Manavalan
Hoehndorf, Robert
Jacobsen, Julius O. B.
Joseph, Thomas
Kamandula, Akash
Katsonis, Panagiotis
Kint, Cyrielle
Lichtarge, Olivier
Limongelli, Ivan
Lu, Yulan
Magni, Paolo
Mamidi, Tarun Karthik Kumar
Martelli, Pier Luigi
Mulargia, Marta
Nicora, Giovanna
Nykamp, Keith
Pejaver, Vikas
Peng, Yisu
Pham, Thi Hong Cam
Podda, Maurizio S.
Rao, Aditya
Rizzo, Ettore
Saipradeep, Vangala G.
Savojardo, Castrense
Schols, Peter
Shen, Yang
Sivadasan, Naveen
Smedley, Damian
Soru, Dorian
Srinivasan, Rajgopal
Sun, Yuanfei
Sunderam, Uma
Tan, Wuwei
Tiwari, Naina
Wang, Xiao
Wang, Yaqiong
Williams, Amanda
Worthey, Elizabeth A.
Yin, Rujie
You, Yuning
Zeiberg, Daniel
Zucca, Susanna
Bakolitsa, Constantina
Brenner, Steven E.
Fullerton, Stephanie M.
Radivojac, Predrag
Rehm, Heidi L.
O’Donnell-Luria, Anne
- Contributor
-
SpringerLink (Online service)
- DOI
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10.1186/s40246-024-00604-w
- URN
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urn:nbn:de:101:1-2407112120370.381293781387
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:44 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Stenton, Sarah L.
- O’Leary, Melanie C.
- Lemire, Gabrielle
- VanNoy, Grace E.
- DiTroia, Stephanie
- Ganesh, Vijay S.
- Groopman, Emily
- O’Heir, Emily
- Mangilog, Brian
- Osei-Owusu, Ikeoluwa
- Pais, Lynn S.
- Serrano, Jillian
- Singer-Berk, Moriel
- Weisburd, Ben
- Wilson, Michael W.
- Austin-Tse, Christina
- Abdelhakim, Marwa
- Althagafi, Azza
- Babbi, Giulia
- Bellazzi, Riccardo
- Bovo, Samuele
- Carta, Maria Giulia
- Casadio, Rita
- Coenen, Pieter-Jan
- De Paoli, Federica
- Floris, Matteo
- Gajapathy, Manavalan
- Hoehndorf, Robert
- Jacobsen, Julius O. B.
- Joseph, Thomas
- Kamandula, Akash
- Katsonis, Panagiotis
- Kint, Cyrielle
- Lichtarge, Olivier
- Limongelli, Ivan
- Lu, Yulan
- Magni, Paolo
- Mamidi, Tarun Karthik Kumar
- Martelli, Pier Luigi
- Mulargia, Marta
- Nicora, Giovanna
- Nykamp, Keith
- Pejaver, Vikas
- Peng, Yisu
- Pham, Thi Hong Cam
- Podda, Maurizio S.
- Rao, Aditya
- Rizzo, Ettore
- Saipradeep, Vangala G.
- Savojardo, Castrense
- Schols, Peter
- Shen, Yang
- Sivadasan, Naveen
- Smedley, Damian
- Soru, Dorian
- Srinivasan, Rajgopal
- Sun, Yuanfei
- Sunderam, Uma
- Tan, Wuwei
- Tiwari, Naina
- Wang, Xiao
- Wang, Yaqiong
- Williams, Amanda
- Worthey, Elizabeth A.
- Yin, Rujie
- You, Yuning
- Zeiberg, Daniel
- Zucca, Susanna
- Bakolitsa, Constantina
- Brenner, Steven E.
- Fullerton, Stephanie M.
- Radivojac, Predrag
- Rehm, Heidi L.
- O’Donnell-Luria, Anne
- SpringerLink (Online service)