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
  • [21] The ClinGen Lysosomal Diseases Gene Curation Panel: Applying a standardized curation framework to assess the clinical validity of genes for lysosomal disease
    Groopman, Emily
    Fernandez, Raquel
    Mohan, Shruthi
    Stafford, Amber
    Weaver, Meredith
    Clarke, Lorne
    Hung, Christina
    Mao, Rong
    Bali, Deeksha
    Vairo, Filippo
    Yuzyuk, Tatiana
    Craigen, William J.
    Goldstein, Jennifer
    MOLECULAR GENETICS AND METABOLISM, 2023, 138 (02) : 53 - 53
  • [22] Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.
    Crowley, Suzanne
    Hankey, William
    Elnagheeb, Marwa
    Mani, Rahma
    Benito, Maria-Ines
    Soliman, Rasha
    Gomes, Mafalda De Almeida
    Ing, Alexander
    Abdelwahab, Sabri
    Worley, Lindsay
    Mcnulty, Shannon
    Siew, Justine
    Thaxton, Courtney Lynn
    Loucks, Catrina M.
    Thomas, Simon
    Zariwala, Maimoona
    Leigh, Margaret
    Morris-Rosendahl, Deborah
    Zietkiewicz, Ewa
    Dell, Sharon
    Gaston, Ben
    Dworniczak, Bernd
    Hirst, Robert
    Raidt, Johanna
    Nykamp, Keith
    Hannah, William
    Fassad, Mahmoud
    Shoemark, Amelia
    Legendre, Marie
    Mitchison, Hannah
    EUROPEAN RESPIRATORY JOURNAL, 2023, 62
  • [23] Timely diagnosis of dairy calf respiratory disease using a standardized scoring system
    McGuirk, Sheila M.
    Peek, Simon F.
    ANIMAL HEALTH RESEARCH REVIEWS, 2014, 15 (02) : 145 - 147
  • [24] Prevalence of Sacroiliitis in Inflammatory Bowel Disease Using a Standardized CT Scoring System
    Chan, Jonathan
    Sari, Ismail
    Salonen, David
    Silverberg, Mark S.
    Haroon, Nigil
    Inman, Robert D.
    ARTHRITIS & RHEUMATOLOGY, 2015, 67
  • [25] ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
    Tshering, Kezang C.
    DiStefano, Marina T.
    Oza, Andrea M.
    Ajuyah, Pamela
    Webb, Ryan
    Edoh, Enyonam
    Broeren, Ellie
    Ratliff, Julie
    Gitau, Vanessa
    Paris, Kelley
    Aburyyan, Amal
    Alexander, John
    Albano, Victoria
    Bai, Donglin
    Booth, Kevin T. A.
    Buonfiglio, Paula I.
    Charfeddine, Cherine
    Dalamon, Viviana
    del Castillo, Ignacio
    Moreno-Pelayo, Miguel Angel
    Duzkale, Hatice
    Dorshorst, Ben
    Faridi, Rabia
    Kenna, Margaret
    Lewis, Morag A.
    Luo, Minjie
    Lu, Yu
    Mkaouar, Rahma
    Matsunaga, Tatsuo
    Nara, Kiyomitsu
    Pandya, Arti
    Redfield, Shelby
    Roux, Isabelle
    Schimmenti, Lisa A.
    Schrauwen, Isabelle
    Shaaban, Sherin
    Shen, Jun
    Vona, Barbara
    Smith, Richard J.
    Rehm, Heidi L.
    Azaiez, Hela
    Abou Tayoun, Ahmad N.
    Amr, Sami S.
    GENETICS IN MEDICINE, 2025, 27 (05)
  • [26] Reproducibility of clinical performance assessment in practice using incognito standardized patients
    Gorter, S
    Rethans, JJ
    van der Heijde, D
    Scherpbier, A
    Houben, H
    van der Vleuten, C
    van der Linden, S
    MEDICAL EDUCATION, 2002, 36 (09) : 827 - 832
  • [27] Heterogeneous biomedical entity representation learning for gene-disease association prediction
    Meng, Zhaohan
    Liu, Siwei
    Liang, Shangsong
    Jani, Bhautesh
    Meng, Zaiqiao
    BRIEFINGS IN BIOINFORMATICS, 2024, 25 (05)
  • [28] Text Mining Task for "Gene-Disease" Association Semantics in CHIP 2022
    Ouyang, Sizhuo
    Yao, Xinzhi
    Wang, Yuxing
    Peng, Qianqian
    He, Zhihan
    Xia, Jingbo
    HEALTH INFORMATION PROCESSING. EVALUATION TRACK PAPERS, 2023, 1773 : 3 - 13
  • [29] The research on gene-disease association based on text-mining of PubMed
    Zhou, Jie
    Fu, Bo-quan
    BMC BIOINFORMATICS, 2018, 19
  • [30] The mining and construction of a knowledge base for gene-disease association in mitochondrial diseases
    Wang, Wei
    Song, Junying
    Chuai, Yunhai
    Chen, Fu
    Song, Chunlan
    Shu, Mingming
    Wang, Yayun
    Li, Yunfei
    Zhai, Xinyu
    Han, Shujie
    Yao, Shun
    Shen, Kexin
    Shang, Wei
    Zhang, Lei
    SCIENTIFIC REPORTS, 2021, 11 (01)