THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: APPLYING A STANDARDIZED CURATION FRAMEWORK TO ASSESS THE CLINICAL VALIDITY OF GENES FOR LYSOSOMAL DISEASE

被引:0
作者
Mao, Rong [1 ,2 ]
Groopman, Emily [3 ]
Fernandez, Raquel [4 ]
Mohan, Shruthi
Stafford, Amber
Baudet, Heather [5 ]
Weaver, Meredith [4 ]
Clarke, Lorne [6 ]
Hung, Christina [7 ]
Bali, Deeksha [8 ]
Pinto e Vairo, Filippo [9 ]
Racacho, Lemuel [10 ]
Yuzyuk, Tatiana [1 ,2 ]
Craigen, William [11 ]
Goldstein, Jennifer [5 ]
机构
[1] Univ Utah, Salt Lake City, UT USA
[2] ARUP Labs, Salt Lake City, UT USA
[3] Broad Inst MIT & Harvard, Cambridge, MA USA
[4] Amer Coll Med Genet & Genom, Bethesda, MD USA
[5] Univ North Carolina Chapel Hill, Chapel Hill, NC USA
[6] Univ British Columbia, Vancouver, BC, Canada
[7] Invitae, San Francisco, CA USA
[8] Duke Univ, Durham, NC USA
[9] Mayo Clin, Rochester, MN USA
[10] Alberta Precis Labs, Calgary, AB, Canada
[11] Baylor Coll Med, Houston, TX USA
关键词
D O I
10.1016/j.ymgme.2023.107454
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
080
引用
收藏
页码:71 / 71
页数:1
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