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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Detalles Bibliográficos
Autores principales: Evans, Perry, Wu, Chao, Lindy, Amanda, McKnight, Dianalee A., Lebo, Matthew, Sarmady, Mahdi, Abou Tayoun, Ahmad N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633260/
https://www.ncbi.nlm.nih.gov/pubmed/31235655
http://dx.doi.org/10.1101/gr.240994.118

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6633260/
https://www.ncbi.nlm.nih.gov/pubmed/31235655
http://dx.doi.org/10.1101/gr.240994.118

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