Open AccessUse of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population
Author(s) -
Jennifer Pugh,
Sikandar G. Khan,
Deborah Tamura,
Alisa M. Goldstein,
Maria Teresa Landi,
John J. DiGiovanna,
Kenneth H. Kraemer
Publication year - 2018
Publication title -
jama dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.128
H-Index - 166
eISSN - 2168-6084
pISSN - 2168-6068
DOI - 10.1001/jamadermatol.2018.4473
Subject(s) - medicine , exome sequencing , missense mutation , exome , population , genetics , nonsense mutation , disease , cohort , mutation , gene , biology , environmental health
Wide use of genomic sequencing to diagnose disease has raised concern about the extent of genotype-phenotype correlations.
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