Genome sequencing and implications for rare disorders
Abstract The practice of genomic medicine stands to revolutionize our approach to medical care, and to realize this goal will require discovery of the relationship between rare variation at each of the ~ 20,000 protein-coding genes and their consequent impact on individual health and expression of M...
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| Format: | Article |
| Language: | English |
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BMC
2019-06-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | http://link.springer.com/article/10.1186/s13023-019-1127-0 |