Gerard C. P. Schaafsma
Uppsala Universitet Medicinska fakulteten
10 papers found
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Representativeness of variation benchmark datasets
Download from doi.orgHuman Variome Project Quality Assessment Criteria for Variation Databases
UploadVariOtator, A Software Tool for Variation Annotation with the Variation Ontology
Download from portal.research.lu.seVariSNP, A Benchmark Database for Variations From dbSNP
UploadUpdate of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
UploadLOVD v.2.0: The next generation in gene variant databases
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