A rare variant analysis framework using public genotype summary counts to prioritize disease-predisposition genes
Sequencing studies in clinical and cancer genomics often utilize public data sets to identify genes enriched with pathogenic variants. Here, the authors propose a framework which controls for confounding factors that can bias the results in these studies.
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-05-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-022-30248-0 |