StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference62 articles.
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1. RExPRT: a machine learning tool to predict pathogenicity of tandem repeat loci;Genome Biology;2024-01-31
2. PhenoSV: interpretable phenotype-aware model for the prioritization of genes affected by structural variants;Nature Communications;2023-11-28
3. VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome;Nucleic Acids Research;2023-11-13
4. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease;2023-10-05
5. VariBench, new variation benchmark categories and data sets;Frontiers in Bioinformatics;2023-09-19
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