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

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, bu...

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Detalles Bibliográficos
Autores principales: Lebo, Roger V, Tonk, Vijay S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312458/
https://www.ncbi.nlm.nih.gov/pubmed/25604770
http://dx.doi.org/10.1186/s12967-014-0333-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4312458/
https://www.ncbi.nlm.nih.gov/pubmed/25604770
http://dx.doi.org/10.1186/s12967-014-0333-8

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