Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide.

ABSTRACT:

Background

Our genomewide studies support targeted testing the most frequent genetic diseases by patient category: (1) pregnant patients, (2) at-risk conceptuses, (3) affected children, and (4) abnormal adults. This approach not only identifies most reported disease causing sequences accurately, but also minimizes incorrectly identified additional disease causing loci.

Methods

Diseases were grouped in descending order of occurrence from four data sets: (1) GeneTests 534 listed population prevalences, (2) 4129 high risk prenatal karyotypes, (3) 1265 affected patient microarrays, and (4) reanalysis of 25,452 asymptomatic patient results screened prenatally for 108 genetic diseases. These most frequent diseases are categorized by transmission: (A) autosomal recessive, (B) X-lin

SUBMITTER: Lebo RV 

PROVIDER: S-EPMC4312458 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature