Thousands of human sequences provide deep insight into single genomes
- PMID: 32461645
- DOI: 10.1038/d41586-020-01485-4
Thousands of human sequences provide deep insight into single genomes
Keywords: Genetics; Genomics.
Comment on
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A structural variation reference for medical and population genetics.Nature. 2020 May;581(7809):444-451. doi: 10.1038/s41586-020-2287-8. Epub 2020 May 27. Nature. 2020. PMID: 32461652 Free PMC article.
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Evaluating drug targets through human loss-of-function genetic variation.Nature. 2020 May;581(7809):459-464. doi: 10.1038/s41586-020-2267-z. Epub 2020 May 27. Nature. 2020. PMID: 32461653 Free PMC article.
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The mutational constraint spectrum quantified from variation in 141,456 humans.Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27. Nature. 2020. PMID: 32461654 Free PMC article.
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Transcript expression-aware annotation improves rare variant interpretation.Nature. 2020 May;581(7809):452-458. doi: 10.1038/s41586-020-2329-2. Epub 2020 May 27. Nature. 2020. PMID: 32461655 Free PMC article.
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