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Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets

Recent advances in DNA sequencing have expanded our understanding of the molecular basis of genetic disorders and increased the utilization of clinical genomic tests. Given the paucity of evidence to accurately classify each variant and the difficulty of experimentally evaluating its clinical signif...

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Dades bibliogràfiques
Publicat a:Genome Res
Autors principals: Evans, Perry, Wu, Chao, Lindy, Amanda, McKnight, Dianalee A., Lebo, Matthew, Sarmady, Mahdi, Abou Tayoun, Ahmad N.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6633260/
https://ncbi.nlm.nih.gov/pubmed/31235655
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.240994.118
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