Ranking of non-coding pathogenic variants and putative essential regions of the human genome
Whole genome sequencing (WGS) holds promise to solve a subset of Mendelian disease cases for which exome sequencing did not provide a genetic diagnosis. Here, Wells et al. report a supervised machine learning model trained on functional, mutational and structural features for rank-scoring and interp...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2019-11-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-019-13212-3 |