Machine Learning for Multi-Omics Data Integration and Variant Pathogenicity Estimation
Open accessAbstract
The rapid advances in the genomic study have made genetics testing common in today's diagnostic practices [1]. Next-generation sequencing provides researchers with a huge amount of genomic data, yet the interpretation still in its infancy [5].The diagnostics yield is still around 30% [1, 3, 8]. Interpretation tools for analyzing the genomic data is needed.
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In recent years, multimodal ML methods have been increasingly studied and applied in a variety of fields.
“In recent years, multimodal ML methods have been increasingly studied and applied in a variety of fields [6, 11].”
From Multimodal deep learning for biomedical data fusion: a review (2022) · cites this paper as [6]
Cites
Deelen, P., van Dam, S., Herkert, J. C., Karjalainen, J. M., Brugge, H., Abbott, K. M., van Diemen, C. C., van der Zwaag, P. A., Gerkes, E. H., Zonneveld-Huijssoon, E., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10649-4 · Cited by 138 · see citing works
Self-citation
Flagged first, then by citations
- Authors
- Li, S., van der Velde, K. J., & Swertz, M. A.
- Affiliations
- University Medical Center Groningen (NL)
- Venue
- 2018 IEEE 14th International Conference on e-Science (e-Science)
- Publisher
- IEEE
- Published
- 2018-10
- Volume
- 8
- Pages
- 301-301
- OpenAlex
- W2906964573
- Cited by
- 0
- References
- 1
- FWCI
- 0.00
- Type
- conference paper
- Language
- en
- Open access
- green
- research.rug.nl
- Licence
- other-oa
- Locations
- IEEE International Conference on eScience (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion, other-oa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- multi-omics integration, variant pathogenicity prediction, variant interpretation, genomic diagnostics, next-generation sequencing, machine learning
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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