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doi: 10.1101/gr.274845.120 , 10.1101/2020.05.09.086082 , 10.5281/zenodo.6539897 , 10.5281/zenodo.6539896
pmid: 35697522
pmc: PMC9248885
handle: 11693/111856
doi: 10.1101/gr.274845.120 , 10.1101/2020.05.09.086082 , 10.5281/zenodo.6539897 , 10.5281/zenodo.6539896
pmid: 35697522
pmc: PMC9248885
handle: 11693/111856
Accurate and efficient detection of copy number variants (CNVs) is of critical importance owing to their significant association with complex genetic diseases. Although algorithms that use whole-genome sequencing (WGS) data provide stable results with mostly valid statistical assumptions, copy number detection on whole-exome sequencing (WES) data shows comparatively lower accuracy. This is unfortunate as WES data are cost-efficient, compact, and relatively ubiquitous. The bottleneck is primarily due to the noncontiguous nature of the targeted capture: biases in targeted genomic hybridization, GC content, targeting probes, and sample batching during sequencing. Here, we present a novel deep learning model, DECoNT, which uses the matched WES and WGS data, and learns to correct the copy number variations reported by any off-the-shelf WES-based germline CNV caller. We train DECoNT on the 1000 Genomes Project data, and we show that we can efficiently triple the duplication call precision and double the deletion call precision of the state-of-the-art algorithms. We also show that our model consistently improves the performance independent of (1) sequencing technology, (2) exome capture kit, and (3) CNV caller. Using DECoNT as a universal exome CNV call polisher has the potential to improve the reliability of germline CNV detection on WES data sets.
Deep Learning, DNA Copy Number Variations, Exome Sequencing, Method, High-Throughput Nucleotide Sequencing, Reproducibility of Results, 006, Exome, Algorithms
Deep Learning, DNA Copy Number Variations, Exome Sequencing, Method, High-Throughput Nucleotide Sequencing, Reproducibility of Results, 006, Exome, Algorithms
| selected citations These citations are derived from selected sources. This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | 14 | |
| popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network. | Top 10% | |
| influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Average | |
| impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network. | Top 10% |
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