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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2015
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| 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 |