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Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population
IMPORTANCE: Wide use of genomic sequencing to diagnose disease has raised concern about the extent of genotype-phenotype correlations. OBJECTIVE: To correlate disease-associated allele frequencies with expected and reported prevalence of clinical disease. DESIGN, SETTING, AND PARTICIPANTS: Xeroderma...
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| Wydane w: | JAMA Dermatol |
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| Główni autorzy: | , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Medical Association
2018
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6439575/ https://ncbi.nlm.nih.gov/pubmed/30516811 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamadermatol.2018.4473 |
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