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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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Detalhes bibliográficos
Publicado no:Genome Res
Main Authors: Evans, Perry, Wu, Chao, Lindy, Amanda, McKnight, Dianalee A., Lebo, Matthew, Sarmady, Mahdi, Abou Tayoun, Ahmad N.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Acesso em linha: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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