Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
| Autor: | Singer-Berk, Moriel, Gudmundsson, Sanna, Baxter, Samantha, Seaby, Eleanor G., England, Eleina, Wood, Jordan C., Son, Rachel G., Watts, Nicholas A., Karczewski, Konrad J., Harrison, Steven M., MacArthur, Daniel G., Rehm, Heidi L., O’Donnell-Luria, Anne |
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| Zdroj: | In The American Journal of Human Genetics 7 September 2023 110(9):1496-1508 |
| Databáze: | ScienceDirect |
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