Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Abstract The accurate interpretation of variation in Mendelian disease genes has lagged behind data generation as sequencing has become increasingly accessible. Ongoing large sequencing efforts present huge interpretive challenges, but also provide an invaluable opportunity to characterize the spect...
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| Main Authors: | , , , , , , , , , , , , , , |
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| 格式: | Pré-impressão |
| 语言: | 英语 |
| 出版: |
2016
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| 在线阅读: | https://doi.org/10.1101/041111 https://www.biorxiv.org/content/biorxiv/early/2016/02/24/041111.full.pdf |
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