ArticleMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2022
Systematic assays and resources for the functional annotation of non-coding variants.
Article in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Bioinformatics Approaches in Noncoding RNAs Research.Experientia supplementum (2012) · 2026Review
- Variation to biology: optimizing functional analysis of cancer risk variants.Journal of the National Cancer Institute · 2024Article
- CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions.Nucleic acids research · 2024Article
- The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies.Molecular genetics & genomic medicine · 2023Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
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 given framework to a particular disease or trait remain major challenges. This limits the translation of results from both genome-wide association studies and genome sequencing. Here, we discuss computational and experimental approaches available for functional annotation of non-coding variation.
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Registered trials
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