Exploring human genomic diversity with gnomAD
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/s41576-020-0255-7.pdf
Reference7 articles.
1. Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434–443 (2020)
2. Minikel, E. V. et al. Evaluating drug targets through human loss-of-function genetic variation. Nature 581, 459–464 (2020)
3. Whiffin, N. et al. The effect of LRRK2 loss-of-function variants in humans. Nat. Med. https://doi.org/10.1038/s41591-020-0893-5 (2020)
4. Collins, R. L. et al. A structural variation reference for medical and population genetics. Nature 581, 444–451 (2020)
5. Cummings, B. B. et al. Transcript expression-aware annotation improves rare variant interpretation. Nature 581, 452–458 (2020)
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