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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Detaylı Bibliyografya
Yayımlandı:JAMA Dermatol
Asıl Yazarlar: Pugh, Jennifer, Khan, Sikandar G., Tamura, Deborah, Goldstein, Alisa M., Landi, Maria Teresa, DiGiovanna, John J., Kraemer, Kenneth H.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Medical Association 2018
Konular:
Original Investigation
Online Erişim: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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