Using ClinGen standardized scoring system for assessment of gene-disease association in the clinical practice

被引:0
|
作者
Zonic, Emir [1 ]
Ferreira, Mariana [1 ]
Ordonez-Herrera, Natalia [1 ]
Saravanakumar, Deepa [1 ]
Almeida, Ligia S. [1 ]
Fernandes, Ines C. [1 ]
Gulati, Nishtha [1 ]
Higgins, Rebecca [1 ]
Pereira, Catarina [1 ]
Paknia, Omid [1 ]
Bauer, Peter [1 ]
Basto, Jorge Pinto [1 ]
Bertoli-Avella, Aida [1 ]
机构
[1] CENTOGENE GmbH, Rostock, Germany
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
EP17.009
引用
收藏
页码:286 / 286
页数:1
相关论文
共 50 条
  • [1] Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
    Grant, Andrew R.
    Cushman, Brandon J.
    Cave, Helene
    Dillon, Mitchell W.
    Gelb, Bruce D.
    Gripp, Karen W.
    Lee, Jennifer A.
    Mason-Suares, Heather
    Rauen, Katherine A.
    Tartaglia, Marco
    Vincent, Lisa M.
    Zenker, Martin
    HUMAN MUTATION, 2018, 39 (11) : 1485 - 1493
  • [2] ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs
    DiStefano, Marina T.
    Hemphill, Sarah E.
    Oza, Andrea M.
    Siegert, Rebecca K.
    Grant, Andrew R.
    Hughes, Madeline Y.
    Cushman, Brandon J.
    Azaiez, Hela
    Booth, Kevin T.
    Chapin, Alex
    Duzkale, Hatice
    Matsunaga, Tatsuo
    Shen, Jun
    Zhang, Wenying
    Kenna, Margaret
    Schimmenti, Lisa A.
    Tekin, Mustafa
    Rehm, Heidi L.
    Abou Tayoun, Ahmad N.
    Amr, Sami S.
    Abdelhak, Sonia
    Alexander, John
    Avraham, Karen
    Bhatia, Neha
    Bai, Donglin
    Boczek, Nicole
    Brownstein, Zippora
    Burt, Rachel
    Bylstra, Yasmin
    del Castillo, Ignacio
    Choi, Byung Yoon
    Downie, Lilian
    Friedman, Thomas
    Giersch, Anne
    Goh, Jasmine
    Greinwald, John
    Griffith, Andrew J.
    Hernandez, Amy
    Holt, Jeffrey
    Hosoya, Makoto
    Ying, Lim Jiin
    Jain, Kanika
    Kim, Un-Kyung
    Kremer, Hannie
    Krantz, Ian
    Leal, Suzanne
    Lewis, Morag
    Liu, Xue Zhong
    Low, Wendy
    Lu, Yu
    GENETICS IN MEDICINE, 2019, 21 (10) : 2239 - 2247
  • [3] Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms
    Wright, Matt W.
    Thaxton, Courtney L.
    Nelson, Tristan
    DiStefano, Marina T.
    Savatt, Juliann M.
    Brush, Matthew H.
    Cheung, Gloria
    Mandell, Mark E.
    Wulf, Bryan
    Ward, T. J.
    Goehringer, Scott
    O'Neill, Terry
    Weller, Phil
    Preston, Christine G.
    Keseler, Ingrid M.
    Goldstein, Jennifer L.
    Strande, Natasha T.
    Mcglaughon, Jennifer
    Azzariti, Danielle R.
    Cordova, Ineke
    Dziadzio, Hannah
    Babb, Lawrence
    Riehle, Kevin
    Milosavljevic, Aleksandar
    Martin, Christa Lese
    Rehm, Heidi L.
    Plon, Sharon E.
    Berg, Jonathan S.
    Riggs, Erin R.
    Klein, Teri E.
    ANNUAL REVIEW OF BIOMEDICAL DATA SCIENCE, 2024, 7 : 31 - 50
  • [4] Challenges and Results of ClinGen Gene-Disease Clinical Validity Curation for Complement-Mediated Kidney Disease
    Wongboonsin, Janewit
    Webb, Ryan Fraser
    Robertson, Pamela A.
    Byrne, Alicia B.
    Caliskan, Yasar
    Java, Anuja
    Kavanagh, David
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2024, 35 (10):
  • [5] Progress in Curating Gene-Disease Relationships by the ClinGen Monogenic Diabetes Expert Panel
    Pollin, Toni I.
    Mayers, Megan A.
    Greeley, Siri Atma W.
    Maloney, Kristin A.
    Naylor, Rochelle N.
    Pakyz, Ruth E.
    Patel, Kashyap A.
    Udler, Miriam
    Zhang, Haichen
    Colclough, Kevin
    Thaxton, Courtney
    DIABETES, 2020, 69
  • [6] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications
    Smith, Erica D.
    Radtke, Kelly
    Rossi, Mari
    Shinde, Deepali N.
    Darabi, Sourat
    El-Khechen, Dima
    Powis, Zoe
    Helbig, Katherine
    Waller, Kendra
    Grange, Dorothy K.
    Tang, Sha
    Hagman, Kelly D. Farwell
    HUMAN MUTATION, 2017, 38 (05) : 600 - 608
  • [7] Measuring gene-disease association using a general pair method
    Ward, PJ
    BonaitiPellie, C
    GENETIC EPIDEMIOLOGY, 1995, 12 (06) : 681 - 686
  • [8] Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification
    Thaxton, Courtney
    Good, Molly E.
    DiStefano, Marina T.
    Luo, Xi
    Andersen, Erica F.
    Thorland, Erik
    Berg, Jonathan
    Martin, Christa Lese
    Rehm, Heidi L.
    Riggs, Erin R.
    HUMAN MUTATION, 2022, 43 (08) : 1031 - 1040
  • [9] Gene-disease association with literature based enrichment
    Tsafnat, Guy
    Jasch, Dennis
    Misra, Agam
    Choong, Miew Keen
    Lin, Frank P. -Y.
    Coiera, Enrico
    JOURNAL OF BIOMEDICAL INFORMATICS, 2014, 49 : 221 - 226
  • [10] Clingen's Neurological Disorders Clinical Domain Working Group: Advancing Gene-Disease Relationships through a Rigorous Validation Process
    Latchman, Kumarie
    Thaxton, Courtney
    Weaver, Meredith
    Fernandez, Raquel
    Elnagheeb, Marwa
    Segall, Hailey
    Harms, Matthew
    Testa, Claudia
    Zuchner, Stephan
    ANNALS OF NEUROLOGY, 2023, 94 : S239 - S239