Systematic assays and resources for the functional annotation of non-coding variants.
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ABSTRACT:
SUBMITTER: Kircher M
PROVIDER: S-EPMC10081529 | biostudies-literature | 2022 Dec
REPOSITORIES: biostudies-literature
Publications
Systematic assays and resources for the functional annotation of non-coding variants.
Kircher Martin M Ludwig Kerstin U KU
Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V 20221129 4
Identification of genetic variation in individual genomes is now a routine procedure in human genetic research and diagnostics. For many variants, however, insufficient evidence is available to establish a pathogenic effect, particularly for variants in non-coding regions. Furthermore, the sheer number of candidate variants renders testing in individual assays virtually impossible. While scalable approaches are being developed, the selection of methods and resources, and the application of a giv ...[more]
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