Pathogenicity assessment of Germline Variants
收藏DataCite Commons2025-06-01 更新2024-07-29 收录
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https://figshare.com/articles/dataset/Pathogenicity_assessment_of_Germline_Variants/13553594/1
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资源简介：
Dataset to reproduce results shown in paper Nicora, G., Zucca, S., Limongelli, I. <i>et al.</i> A machine learning approach based on ACMG/AMP guidelines for genomic variant classification and prioritization. <i>Sci Rep</i> 12, 2517 (2022). https://doi.org/10.1038/s41598-022-06547-3.Variants associated with a broad set of mendelian diseases are collected from the CLINVITAE public dataset (http://clinvitae.invitae.com) and they are annotated according to the ACMG/AMP guidelines through the eVai software (https://www.engenome.com).Variants associated with hereditary cancer (reported as pathogenic in the ICR639 study) are also annotated and uploaded. Code: https://github.com/GiovannaNicora/MLVar<br><br>
提供机构：
figshare
创建时间：
2022-03-12
