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. 2011 Mar 16;19(5). doi: 10.1038/ejhg.2011.27

Table 2. Genetic terminology used in titles of genetic risk prediction studies and retrieval of the studies in Pubmed.

    Pubmed clinical query  
    Clinical prediction guides Prognosis    
Terminology Reference Narrow Broad Narrow Broad Genetic risk predictiona
Candidate gene genotypes 55 No Yes No Yes No
DNA variants 33 No Yes No Yes Yes
Gene polymorphisms 54 No Yes Yes Yes Yes
Gene variants 32 No No Yes Yes No
Genetic approaches 92 No Yes No Yes Yes
Genetic prediction 93 No Yes No Yes Yes
Genetic risk factors 52 No Yes Yes Yes Yes
Genetic risk score 35 No Yes Yes Yes Yes
Genetic variables 6 No Yes No Yes Yes
Genetic variants 67 No No No No No
  31 No Yes Yes Yes Yes
Genetic variation 56 No Yes Yes Yes Yes
Genotype score 48 No Yes No Yes Yes
Molecular prediction 7 No Yes Yes Yes Yes
Polygenic determinants 8 No No No No No
Polymorphisms 51 No Yes No Yes Yes
  42 No Yes No Yes Yes
  47 No Yes Yes Yes No
  No Yes No Yes Yes
  No Yes Yes Yes Yes
  36 No Yes No Yes Yes
Susceptibility gene variants 30 No No No No No
Weighted genetic score 57 No No No Yes Yes
No mention of genetics in title 37 Yes Yes No Yes Yes
             
Retrieved (out of 24)   1 19 9 21 18
(genetic[ti] or gene[ti] or DNA[ti] or polymorphism*[ti] or molecular[ti] or polygenic[ti]) AND 〈query〉b   4772 156 641 18 090 67 931  
(Genetic or genomic) risk predictiona           1597

Retrieval data were obtained from PubMed queries conducted in February 2010.

a

The search strategy used in the last column is described in the last row.

b

The first part of this strategy captures the genetic descriptions from the titles of all papers listed in the table, except the one that had no mention of genetics in the title. The second part refers to the query listed in the column heading.